LOVD SPTLC1 homepage

General information
Gene name serine palmitoyltransferase, long chain base subunit 1
Gene symbol SPTLC1
Chromosome Location 9q22.31
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen and Bernd Rautenstrauss
PubMed references View all (unique) PubMed references in the SPTLC1 database
Date of creation May 23, 2012
Last update March 29, 2013
Version SPTLC1 130329
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_007950.1
Transcript refseq ID NM_006415.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SPTLC1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 11277
Entrez Gene 10558
OMIM - Gene 605712
HGMD SPTLC1
GeneCards SPTLC1
GeneTests SPTLC1

Copyright & disclaimer
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