solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6) - coding DNA reference sequence

(used for mutation description)

(last modified May 30, 2012)


This file was created to facilitate the description of sequence variants in the SLC12A6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007951.1, covering SLC12A6 transcript NM_133647.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.6264
                 tgagtagaagtattcttagttggggctttttgtgtggtgtgaat       c.-121

 .         .         .         .         .         .                g.6324
 caaggttattgaaatgtgttatttttcaagttatcttttgtattgcagtcaaaagtagct       c.-61

 .         .         .         .         .         .                g.6384
 agcgtaagaggaagattttgcgaggttccccccactttttttgttcttaaaaagaacaaa       c.-1

          .         .         .         .         .         .       g.6444
 ATGCATCCTCCAGAAACCACCACCAAGATGGCTTCAGTTCGGTTCATGGTGACACCGACA       c.60
 M  H  P  P  E  T  T  T  K  M  A  S  V  R  F  M  V  T  P  T         p.20

          .         .         .         .         .         .       g.6504
 AAGATCGATGACATTCCAGGTTTGTCAGACACCAGTCCGGACCTCAGCTCTCGATCTAGT       c.120
 K  I  D  D  I  P  G  L  S  D  T  S  P  D  L  S  S  R  S  S         p.40

          .         .         .         .         .         .       g.6564
 TCCCGAGTAAGATTTAGCTCCCGGGAAAGCGTGCCTGAAACAAGCCGGAGTGAGCCTATG       c.180
 S  R  V  R  F  S  S  R  E  S  V  P  E  T  S  R  S  E  P  M         p.60

          .         .         .         .         .         .       g.6624
 AGTGAGATGTCTGGGGCCACCACTTCGCTGGCAACTGTTGCACTGGATCCACCCAGTGAC       c.240
 S  E  M  S  G  A  T  T  S  L  A  T  V  A  L  D  P  P  S  D         p.80

          .         .         .  | 02      .         .         .    g.67704
 CGGACTTCTCACCCCCAGGATGTCATCGAGG | ACCTGAGTCAGAACTCCATCACAGGGGAA    c.300
 R  T  S  H  P  Q  D  V  I  E  D |   L  S  Q  N  S  I  T  G  E      p.100

          .       | 03 .         .         .         .         .    g.82088
 CACAGCCAACTGTTAG | ACGACGGACATAAGAAAGCTCGAAATGCTTATCTCAATAATTCC    c.360
 H  S  Q  L  L  D |   D  G  H  K  K  A  R  N  A  Y  L  N  N  S      p.120

          .         .         .         .         .  | 04      .    g.84129
 AATTATGAAGAAGGAGATGAATATTTTGATAAAAATTTGGCACTCTTTGAG | GAAGAAATG    c.420
 N  Y  E  E  G  D  E  Y  F  D  K  N  L  A  L  F  E   | E  E  M      p.140

          .         .         .         .         .         .       g.84189
 GACACCAGACCGAAGGTGTCTTCCCTCCTCAACCGCATGGCCAATTACACTAATCTGACT       c.480
 D  T  R  P  K  V  S  S  L  L  N  R  M  A  N  Y  T  N  L  T         p.160

          .         .         .         .         .         .       g.84249
 CAAGGAGCAAAGGAACATGAAGAGGCAGAAAACATCACTGAAGGGAAAAAGAAGCCCACC       c.540
 Q  G  A  K  E  H  E  E  A  E  N  I  T  E  G  K  K  K  P  T         p.180

     | 05    .         .         .         .         .         .    g.85333
 AAG | ACCCCCCAAATGGGTACCTTCATGGGTGTCTACCTCCCATGTCTACAAAATATTTTT    c.600
 K   | T  P  Q  M  G  T  F  M  G  V  Y  L  P  C  L  Q  N  I  F      p.200

          .         .         .         .         .         .       g.85393
 GGAGTGATCCTTTTTTTACGCCTTACATGGGTGGTGGGCACAGCTGGAGTTCTTCAGGCT       c.660
 G  V  I  L  F  L  R  L  T  W  V  V  G  T  A  G  V  L  Q  A         p.220

          .         .         . | 06       .         .         .    g.86811
 TTTGCAATTGTCCTTATCTGCTGCTGCTGT | ACAATGTTGACTGCTATCTCCATGAGTGCC    c.720
 F  A  I  V  L  I  C  C  C  C   | T  M  L  T  A  I  S  M  S  A      p.240

          .         .      | 07  .         .         .         .    g.87707
 ATTGCCACTAATGGAGTGGTGCCAG | CTGGGGGCTCATACTTTATGATTTCCCGGGCACTG    c.780
 I  A  T  N  G  V  V  P  A |   G  G  S  Y  F  M  I  S  R  A  L      p.260

          .         .         .         .         .         .       g.87767
 GGCCCAGAGTTTGGTGGGGCTGTTGGCCTCTGCTTTTATCTTGGTACCACATTTGCAGCA       c.840
 G  P  E  F  G  G  A  V  G  L  C  F  Y  L  G  T  T  F  A  A         p.280

          .         .         .       | 08 .         .         .    g.88499
 GCCATGTACATCCTTGGTGCCATTGAAATCTTTCTG | GTCTATATCGTCCCCCGAGCTGCC    c.900
 A  M  Y  I  L  G  A  I  E  I  F  L   | V  Y  I  V  P  R  A  A      p.300

          .         .         .         .         .         .       g.88559
 ATCTTTCACAGTGATGACGCACTCAAGGAATCAGCAGCCATGCTAAATAACATGCGTGTC       c.960
 I  F  H  S  D  D  A  L  K  E  S  A  A  M  L  N  N  M  R  V         p.320

          .         .         .         .         .         .       g.88619
 TACGGCACAGCTTTCTTGGTCCTTATGGTATTAGTGGTATTTATCGGCGTACGCTATGTG       c.1020
 Y  G  T  A  F  L  V  L  M  V  L  V  V  F  I  G  V  R  Y  V         p.340

          .         .         .         .         .         .       g.88679
 AACAAGTTTGCCTCACTTTTCCTGGCCTGTGTCATTGTGTCCATCTTGGCCATCTATGCT       c.1080
 N  K  F  A  S  L  F  L  A  C  V  I  V  S  I  L  A  I  Y  A         p.360

          .         .         .         | 09         .         .    g.90702
 GGAGCCATCAAGTCTTCTTTTGCTCCTCCACACTTCCC | GGTCTGCATGCTGGGTAACCGC    c.1140
 G  A  I  K  S  S  F  A  P  P  H  F  P  |  V  C  M  L  G  N  R      p.380

          .         .         .         .         .         .       g.90762
 ACCCTTTCATCAAGACACATTGACGTTTGCTCTAAGACCAAGGAAATTAACAACATGACA       c.1200
 T  L  S  S  R  H  I  D  V  C  S  K  T  K  E  I  N  N  M  T         p.400

          .         .         .         .         .         .       g.90822
 GTCCCATCAAAGTTATGGGGATTCTTCTGTAACTCGAGTCAATTTTTCAATGCCACCTGT       c.1260
 V  P  S  K  L  W  G  F  F  C  N  S  S  Q  F  F  N  A  T  C         p.420

          .         .         .         .         .         .       g.90882
 GATGAATACTTTGTTCACAATAACGTCACTTCAATCCAGGGCATTCCTGGATTGGCTAGT       c.1320
 D  E  Y  F  V  H  N  N  V  T  S  I  Q  G  I  P  G  L  A  S         p.440

          .    | 10    .         .         .         .         .    g.92054
 GGTATAATTACAG | AGAATCTTTGGAGTAATTACCTACCCAAGGGAGAGATCATCGAAAAG    c.1380
 G  I  I  T  E |   N  L  W  S  N  Y  L  P  K  G  E  I  I  E  K      p.460

          .         .         .         .         .         .       g.92114
 CCTTCAGCCAAATCTTCTGATGTCTTAGGCAGCTTAAACCATGAATATGTTCTTGTTGAC       c.1440
 P  S  A  K  S  S  D  V  L  G  S  L  N  H  E  Y  V  L  V  D         p.480

          .         .         .         .         .   | 11     .    g.92343
 ATCACCACCTCCTTCACGCTTCTGGTGGGAATCTTCTTTCCCTCTGTTACAG | GTATCATG    c.1500
 I  T  T  S  F  T  L  L  V  G  I  F  F  P  S  V  T  G |   I  M      p.500

          .         .         .         .         .         .       g.92403
 GCTGGATCAAACAGATCTGGAGATCTGAAAGATGCTCAGAAGTCTATTCCGATTGGTACT       c.1560
 A  G  S  N  R  S  G  D  L  K  D  A  Q  K  S  I  P  I  G  T         p.520

          .         .         .  | 12      .         .         .    g.92738
 ATCCTTGCCATCCTGACCACCTCCTTTGTTT | ATTTAAGCAATGTTGTCCTTTTTGGTGCA    c.1620
 I  L  A  I  L  T  T  S  F  V  Y |   L  S  N  V  V  L  F  G  A      p.540

          .         .          | 13        .         .         .    g.97228
 TGTATTGAAGGGGTTGTTCTCAGAGACAA | GTTCGGTGATGCTGTGAAAGGTAATTTGGTG    c.1680
 C  I  E  G  V  V  L  R  D  K  |  F  G  D  A  V  K  G  N  L  V      p.560

          .         .         .         .         .         .       g.97288
 GTAGGCACCTTATCTTGGCCATCCCCATGGGTGATTGTTATTGGCTCCTTCTTTTCAACA       c.1740
 V  G  T  L  S  W  P  S  P  W  V  I  V  I  G  S  F  F  S  T         p.580

          .         .         .         .         .         .       g.97348
 TGTGGGGCTGGACTTCAGAGCCTCACAGGTGCACCGAGGCTGCTACAAGCTATTGCCAAG       c.1800
 C  G  A  G  L  Q  S  L  T  G  A  P  R  L  L  Q  A  I  A  K         p.600

          .         .     | 14   .         .         .         .    g.97697
 GATAACATCATACCGTTTCTGAGG | GTTTTTGGCCACAGCAAAGCCAATGGGGAACCTACC    c.1860
 D  N  I  I  P  F  L  R   | V  F  G  H  S  K  A  N  G  E  P  T      p.620

          .         .         .         .         .         .       g.97757
 TGGGCTTTACTTCTAACTGCTGCCATTGCAGAGCTTGGAATACTCATTGCCTCCCTGGAT       c.1920
 W  A  L  L  L  T  A  A  I  A  E  L  G  I  L  I  A  S  L  D         p.640

          .         .    | 15    .         .         .         .    g.99029
 CTTGTGGCCCCAATTCTTTCCAT | GTTTTTTCTCATGTGTTACCTCTTTGTAAACTTGGCA    c.1980
 L  V  A  P  I  L  S  M  |  F  F  L  M  C  Y  L  F  V  N  L  A      p.660

          .         .         .         .         .         .       g.99089
 TGTGCCTTGCAAACATTACTTCGAACACCCAACTGGAGACCCCGATTCCGCTACTACCAT       c.2040
 C  A  L  Q  T  L  L  R  T  P  N  W  R  P  R  F  R  Y  Y  H         p.680

    | 16     .         .         .         .         .         .    g.100901
 TG | GGCCCTTTCTTTCATGGGAATGAGTATCTGTCTGGCTCTGATGTTCATTTCTTCCTGG    c.2100
 W  |  A  L  S  F  M  G  M  S  I  C  L  A  L  M  F  I  S  S  W      p.700

          .         .         .         .         .         .       g.100961
 TATTATGCCATTGTAGCCATGGTAATAGCTGGTATGATCTACAAGTACATTGAATACCAA       c.2160
 Y  Y  A  I  V  A  M  V  I  A  G  M  I  Y  K  Y  I  E  Y  Q         p.720

    | 17     .         .         .         .         .         .    g.101785
 GG | AGCTGAGAAAGAATGGGGTGATGGTATCCGTGGGCTGTCCCTCAGTGCAGCCCGGTTT    c.2220
 G  |  A  E  K  E  W  G  D  G  I  R  G  L  S  L  S  A  A  R  F      p.740

          .         .         .         .        | 18.         .    g.102248
 GCTTTGCTTCGATTGGAGGAAGGACCTCCACACACTAAAAACTGGAG | GCCTCAGTTGCTT    c.2280
 A  L  L  R  L  E  E  G  P  P  H  T  K  N  W  R  |  P  Q  L  L      p.760

          .         .         .         .         .         .       g.102308
 GTATTACTGAAACTAGATGAAGACTTACATGTCAAGCATCCTCGCCTCCTCACCTTTGCC       c.2340
 V  L  L  K  L  D  E  D  L  H  V  K  H  P  R  L  L  T  F  A         p.780

          .         .         .         .         .         .       g.102368
 TCACAGCTCAAAGCAGGAAAAGGTCTCACTATTGTGGGCTCTGTCATCGTGGGGAACTTC       c.2400
 S  Q  L  K  A  G  K  G  L  T  I  V  G  S  V  I  V  G  N  F         p.800

          .         .         .       | 19 .         .         .    g.103928
 CTAGAGAACTACGGTGAAGCTTTAGCTGCTGAGCAG | ACCATAAAGCACCTAATGGAGGCA    c.2460
 L  E  N  Y  G  E  A  L  A  A  E  Q   | T  I  K  H  L  M  E  A      p.820

          .         .         .         .         .         .       g.103988
 GAGAAGGTAAAAGGATTCTGCCAGCTGGTGGTGGCCGCCAAGCTGAGAGAGGGCATTTCC       c.2520
 E  K  V  K  G  F  C  Q  L  V  V  A  A  K  L  R  E  G  I  S         p.840

          .         .         .         .         .         .       g.104048
 CACCTCATCCAGTCATGTGGCCTTGGGGGCATGAAGCACAACACGGTGGTGATGGGCTGG       c.2580
 H  L  I  Q  S  C  G  L  G  G  M  K  H  N  T  V  V  M  G  W         p.860

          .         .         .         .         .   | 20     .    g.104671
 CCTAATGGCTGGCGTCAAAGCGAAGATGCCCGCGCTTGGAAGACTTTTATTG | GCACAGTT    c.2640
 P  N  G  W  R  Q  S  E  D  A  R  A  W  K  T  F  I  G |   T  V      p.880

          .         .         .         .         .         .       g.104731
 CGAGTGACAACTGCTGCCCATCTTGCACTGCTGGTGGCTAAAAACATCTCCTTCTTTCCC       c.2700
 R  V  T  T  A  A  H  L  A  L  L  V  A  K  N  I  S  F  F  P         p.900

          .         .         .         .         .         .       g.104791
 AGCAATGTGGAGCAATTTTCTGAGGGCAACATTGATGTGTGGTGGATTGTGCATGATGGG       c.2760
 S  N  V  E  Q  F  S  E  G  N  I  D  V  W  W  I  V  H  D  G         p.920

          .         .         .         .   | 21     .         .    g.105532
 GGGATGCTTATGCTACTACCATTCCTACTGAAACAGCACAAG | GTGTGGCGAAAGTGCAGC    c.2820
 G  M  L  M  L  L  P  F  L  L  K  Q  H  K   | V  W  R  K  C  S      p.940

          .         .         .         .         .         .       g.105592
 ATACGGATCTTCACAGTAGCCCAATTAGAAGACAACAGTATCCAAATGAAGAAGGACCTA       c.2880
 I  R  I  F  T  V  A  Q  L  E  D  N  S  I  Q  M  K  K  D  L         p.960

          .         .         .         .         .     | 22   .    g.106255
 GCCACCTTCCTATATCACTTACGCATTGAGGCGGAGGTAGAAGTGGTGGAGATG | CATGAC    c.2940
 A  T  F  L  Y  H  L  R  I  E  A  E  V  E  V  V  E  M   | H  D      p.980

          .         .         .         .         .         .       g.106315
 AGTGATATATCAGCATATACTTACGAGCGCACTTTGATGATGGAACAAAGGTCCCAGATG       c.3000
 S  D  I  S  A  Y  T  Y  E  R  T  L  M  M  E  Q  R  S  Q  M         p.1000

          .         .         .         .   | 23     .         .    g.106883
 CTCCGGCACATGCGGCTATCCAAAACAGAGCGAGACAGAGAG | GCACAATTGGTGAAAGAC    c.3060
 L  R  H  M  R  L  S  K  T  E  R  D  R  E   | A  Q  L  V  K  D      p.1020

          .         .         .         .         .         .       g.106943
 CGAAACTCAATGCTACGATTGACCAGCATTGGCTCTGATGAGGACGAAGAGACAGAAACC       c.3120
 R  N  S  M  L  R  L  T  S  I  G  S  D  E  D  E  E  T  E  T         p.1040

          .         .         .         .         .         .       g.107003
 TATCAGGAGAAGGTGCACATGACTTGGACAAAAGACAAGTACATGGCATCCCGGGGACAA       c.3180
 Y  Q  E  K  V  H  M  T  W  T  K  D  K  Y  M  A  S  R  G  Q         p.1060

          .         .         .         .        | 24.         .    g.107763
 AAAGCGAAGTCAATGGAAGGATTCCAGGACCTGCTTAACATGCGTCC | GGACCAGTCCAAT    c.3240
 K  A  K  S  M  E  G  F  Q  D  L  L  N  M  R  P  |  D  Q  S  N      p.1080

          .         .         .         .         .         .       g.107823
 GTGAGGCGGATGCATACAGCAGTGAAACTCAACGAGGTTATAGTTAACAAGTCCCATGAA       c.3300
 V  R  R  M  H  T  A  V  K  L  N  E  V  I  V  N  K  S  H  E         p.1100

          .         .         .         .         .         .       g.107883
 GCAAAGCTGGTTTTATTGAATATGCCAGGGCCACCCCGAAACCCTGAGGGTGATGAAAAC       c.3360
 A  K  L  V  L  L  N  M  P  G  P  P  R  N  P  E  G  D  E  N         p.1120

   | 25      .         .         .         .         .         .    g.109151
 T | ACATGGAGTTCCTAGAGGTGCTTACCGAGGGACTAGAGCGAGTCCTACTTGTCCGGGGT    c.3420
 Y |   M  E  F  L  E  V  L  T  E  G  L  E  R  V  L  L  V  R  G      p.1140

          .         .         .                                     g.109184
 GGTGGCAGTGAAGTGATCACCATTTATTCATAA                                  c.3453
 G  G  S  E  V  I  T  I  Y  S  X                                    p.1150

          .         .         .         .         .         .       g.109244
 cctactctgaatgaccgtgcttgacctgttttcttaaaaggcctacgtcctccatggaag       c.*60

          .         .         .         .         .         .       g.109304
 tgccagctcattactaccactcccactcaactagaagcctgtgttctgtacacatcatac       c.*120

          .         .         .         .         .         .       g.109364
 tgaactcttgatgagctgagcctcaagtacctgtgtaaaagagctcccatctgatctgca       c.*180

          .         .         .         .         .         .       g.109424
 gtcattacagaaaaagcaaatattccctcaacatcagaacaatgctcaagtctttcaagc       c.*240

          .         .         .         .         .         .       g.109484
 cacgtctgagcagtcaaaggcaaattagaattaacaagctgagccaataaatgaattggt       c.*300

          .         .         .         .         .         .       g.109544
 aaaagggatgctagaaattcaactgaagaaaaaaagcaagtcaagtacgtattcagcatt       c.*360

          .         .         .         .         .         .       g.109604
 aaagatgaatctcagaagtcatggttcaatgttgacactgtgaggataacaactagagac       c.*420

          .         .         .         .         .         .       g.109664
 agcttcatcttactaaagaatttatggtcaagtatatttggacctattatcctcggcaag       c.*480

          .         .         .         .         .         .       g.109724
 ccaagatgcaaacattttttagctatatttctttagtatacccactgctgtaattttata       c.*540

          .         .         .         .         .         .       g.109784
 ttaggatactaacttgaaacatggctgcagcctctacttcttcaaaaacatccccccaaa       c.*600

          .         .         .         .         .         .       g.109844
 ataccagatttaaatatccaaatactgtgtcagtgtatacttcaactgttttgtttctct       c.*660

          .         .         .         .         .         .       g.109904
 taactcaaaacccattctgtcattgtaacacaggcagtgttaccatggaaattgtttttg       c.*720

          .         .         .         .         .         .       g.109964
 gtaaggtaaaaattatttctttcaggttcctttcaaatggccgaactaagagaactccaa       c.*780

          .         .         .         .         .         .       g.110024
 aaggaagctattaacatttactgaaatagtctgtggttctctatacaacatggacaaaac       c.*840

          .         .         .         .         .         .       g.110084
 atacaagctgttgtctaagaaatgcaggtcatggtgcacattaatcaacaggttcttctc       c.*900

          .         .         .         .         .         .       g.110144
 cccccgcccccacccccgcgcctttttttatgccctcttattaagcacaggtcaaaaaat       c.*960

          .         .         .         .         .         .       g.110204
 cttaaggaacaaatactaggaaaactggctaaacatccttccctgaaagcactggaccat       c.*1020

          .         .         .         .         .         .       g.110264
 cttttaaagggcacatctagcaatggaattggaagttctagagccacactctttctttag       c.*1080

          .         .         .         .         .         .       g.110324
 tgccaacgttactgagcggctactctccttacctactttactaaaatggcatacagattg       c.*1140

          .         .         .         .         .         .       g.110384
 gcattgacctgttgaagaaattttaccactaagaaatcttttgcctcatctacaaagcca       c.*1200

          .         .         .         .         .         .       g.110444
 tagttaagacttgaggcattcaacttaatgccaagtataagcatttccccctttttcttt       c.*1260

          .         .         .         .         .         .       g.110504
 caattttattcttcattctgactacagaaacttggccctgaactacgagattagccaagc       c.*1320

          .         .         .         .         .         .       g.110564
 caacagtcttctaatttgttttcagaaacttcaggccgggtgccgtggctcacacctgta       c.*1380

          .         .         .         .         .         .       g.110624
 atcccagcactttgggaggccaaggcaggtgaatcacttgaggtcaggagttcgagacca       c.*1440

          .         .         .         .         .         .       g.110684
 tcctggccaacatggtgaaaacctgtctatactaaaaatacaaaaattagctgggcatgg       c.*1500

          .         .         .         .         .         .       g.110744
 tggtgcatgcctgtgatcccagcaacacggaaggctaaggcaggaggatcatttgaaccc       c.*1560

          .         .         .         .         .         .       g.110804
 aggaggcggaggttgcagtgagccaggattgcacctctgcactccagcctgggtaacaga       c.*1620

          .         .         .         .         .         .       g.110864
 gtgatatgtttcaaaaagaaagttcagtgtgccaaggaaatacttgtgtaagctcagctt       c.*1680

          .         .         .         .         .         .       g.110924
 tttatttactaatatactgatcaaacatctggcttacaagcatagggaaactacttatgt       c.*1740

          .         .         .         .         .         .       g.110984
 ggctggctgagcagtaatttcaagtatgtgaaatcttcatttcttttacagaatagttat       c.*1800

          .         .         .         .         .         .       g.111044
 ttagagaaacttttcttgcctgtattcatggctgtttttgaatttcaatttattagtcat       c.*1860

          .         .         .         .         .         .       g.111104
 aaatagtgccactcttctttgattactaaataggacatggagcaagctgacctaggtgtc       c.*1920

          .         .         .         .         .         .       g.111164
 acaaattattcatttgacctgtaaggacagagaaaacccttcaatatagcttaagaaatt       c.*1980

          .         .         .         .         .         .       g.111224
 gagtaattttgggccgggtgcagtgactcacgcctgtaatcccagcactttgggaggccg       c.*2040

          .         .         .         .         .         .       g.111284
 aggcaggcggatcacgaggtcaggagatttgagaccatcctggctaacacggtgaaaccc       c.*2100

          .         .         .         .         .         .       g.111344
 tgtctctacaaaaatacaaaaaaattagtcgggcatggtggcgggcgcctgtagtcccag       c.*2160

          .         .         .         .         .         .       g.111404
 ctacttgggaggctgaggcgggagaatggcgtgaacccgggaggtggaacttgcagtgaa       c.*2220

          .         .         .         .         .         .       g.111464
 ccgagattgcaccactgcactccagcctgggcgacagagggagactccatctcaaaaaaa       c.*2280

          .         .         .         .         .         .       g.111524
 aaaaaaaagaaagaaagaaagaaattgagtaattttgatttgttccctttgcttgcttca       c.*2340

          .         .         .         .         .         .       g.111584
 acctccaggcccactgaggatggcaaagcggataggatcttaagtctttttttctgttac       c.*2400

          .         .         .         .         .         .       g.111644
 ttcctacagatggtagaagcattatttacaactcccactgcaacactccattgcttagtt       c.*2460

          .         .         .         .         .         .       g.111704
 gagtttaacagtagtgagtcatgtcctgcaggatccagtatcttttttttttttttccga       c.*2520

          .         .         .         .         .         .       g.111764
 gacgtagtttcgctcttgttgcccaggctggagtgaaatggcacaatcttggctcaccgc       c.*2580

          .         .         .         .         .         .       g.111824
 aacctctgcctcctgggttcaagcgattctcctgcctcagcctcccgagtagctggaatt       c.*2640

          .         .         .         .         .         .       g.111884
 acaagcatgtgccaccacacccagctaattttgtattttcagtagagacggggtttctct       c.*2700

          .         .         .         .         .         .       g.111944
 actgaaactgatgttggtcaggctggtctcgaactcccaacctcaggtgatccgcccgcc       c.*2760

          .         .         .         .         .         .       g.112004
 ttggcctcccaaagtgctgggattacaggcgtgagccactgtgcccaaccaggatccagt       c.*2820

          .         .         .         .         .         .       g.112064
 atcttaaaggcccatactgtaaaggtcagcctgcctaggaattctgccacatttacacac       c.*2880

          .         .         .         .         .         .       g.112124
 acccctggccaaagtaatattttttttttccatgtagaacaaattatgggcagaaagtaa       c.*2940

          .         .         .         .         .         .       g.112184
 agttagttttagaagtgctgtttgtggttggagaattgtaaaaatcttttaaagggataa       c.*3000

          .         .         .         .         .         .       g.112244
 gggaattagtggcttttaatataaccactgcttcagcccgaaacacaaaatcactgttac       c.*3060

          .         .         .         .         .         .       g.112304
 atggaaaactggttattaggccagatttatattcatgtctgtctagagtatttcatgtgt       c.*3120

          .         .         .         .         .         .       g.112364
 gtatgtgttgcttacgttgtctgtctccaaagtctctcatctcttttaatcactgcaaat       c.*3180

          .         .         .         .         .         .       g.112424
 aaagcaatactgaaaacttgagagaatgcaccttaggggaaggggctatttcaagacaga       c.*3240

          .         .         .         .         .         .       g.112484
 aaacaaaggaaatacctgccttttgaataagatcccgcttttgagtcttacctatgactt       c.*3300

          .         .         .         .         .         .       g.112544
 taccagggtagattagaaatacacatcctcctgctgaccctctgccttcaatagctatct       c.*3360

          .         .         .         .         .         .       g.112604
 atcttaaaagctgaagtttgaactgcagcatctgcttgacaggtgccaggttccttcggc       c.*3420

          .         .         .         .         .         .       g.112664
 agggggacgatcactctatatatcttccgttgcctcagattcctgtggcccaaggatccc       c.*3480

          .         .         .         .         .         .       g.112724
 accaatcctcgttccccctaaacatgctaacaaaaatcccttatcgtgggtattaaaata       c.*3540

          .         .         .         .         .         .       g.112784
 ataacagttacactgtatgcatatttatgtgctccttttgtctggtttttcttttcatca       c.*3600

          .         .         .         .         .         .       g.112844
 tgtataagctgaattcagcattagtttctcacatcttcccccaggtatccccaacagaat       c.*3660

          .         .         .         .         .         .       g.112904
 ttttatgtcccagcttgtattaaatagaagtgaaatattaaggaaaataaggaacttgtg       c.*3720

          .         .         .         .         .         .       g.112964
 caactttttttatgcattgttctcaaccatttaatttattgaaaggagatgctgcaacag       c.*3780

          .         .         .         .         .         .       g.113024
 ttcttgatttagcagcagttattctcttgtttacatagttatgtttttttgttgttgttt       c.*3840

          .         .         .         .                           g.113069
 tgctctgtactggaaacaaaaataaagttttctacattattttca                      c.*3885

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Solute carrier family 12 (potassium/chloride transporters), member 6 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.2.0 Build 34
©2004-2012 Leiden University Medical Center