(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.
(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)
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