The SPTLC1 gene homepage

General information
Gene symbol SPTLC1
Gene name serine palmitoyltransferase, long chain base subunit 1
Chromosome 9
Chromosomal band q22.31
Imprinted Unknown
Genomic reference LRG_272
Transcript reference NM_001281303.2, NM_001368272.1, NM_006415.3
Associated with diseases ALS, HSAN
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 27
Unique public DNA variants reported 25
Individuals with public variants 27
Hidden variants -
Date created December 22, 2014
Date last updated February 02, 2024
Version SPTLC1:240202

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL LRG_272
HGNC 11277
Entrez Gene 10558
PubMed articles SPTLC1
OMIM - Gene 605712
OMIM - Diseases ALS (Amyotrophic Lateral Sclerosis)
HSAN (Hereditary Sensory and Autonomic Neuropathy)
HGMD SPTLC1
GeneCards SPTLC1
GeneTests SPTLC1
Orphanet SPTLC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000331 9 serine palmitoyltransferase long chain base subunit 1, transcript variant 3 NM_001281303.2 NP_001268232.1 15
00000059 9 transcript variant 1 NM_006415.3 NP_006406.1 11
00000332 9 serine palmitoyltransferase long chain base subunit 1, transcript variant 4 NM_001368272.1 NP_001355201.1 1


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