SCN1A gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SCN1A
Gene name sodium channel, voltage-gated, type I, alpha subunit
Chromosome 2
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001165963.1, NM_001165964.1, NM_001202435.1, NM_006920.4
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 12
Unique public DNA variants reported 12
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013
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
HGNC 10585
Entrez Gene 6323
PubMed articles SCN1A
OMIM - Gene 182389
HGMD SCN1A
GeneCards SCN1A
GeneTests SCN1A


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001111 2 transcript variant 4 NM_001202435.1 NP_001189364.1 12
00001112 2 transcript variant 3 NM_001165964.1 NP_001159436.1 12
00001113 2 transcript variant 2 NM_006920.4 NP_008851.3 12
00001114 2 transcript variant 1 NM_001165963.1 NP_001159435.1 12


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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