SCN9A gene homepage

General information
Gene symbol SCN9A
Gene name sodium channel, voltage-gated, type IX, alpha subunit
Chromosome 2
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_012798.1
Transcript reference NM_002977.3
Exon/intron information NM_002977.3 exon/intron table
Associated with diseases CIP, EIEE-6, GEFSP-7, PEPD, erythromelalgia, primary
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 312
Unique public DNA variants reported 213
Individuals with public variants 130
Hidden variants 19
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated February 24, 2019
Version SCN9A:190224

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002977.3.
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
Homepage URL
External URL Orphanet
HGNC 10597
Entrez Gene 6335
PubMed articles SCN9A
OMIM - Gene 603415
OMIM - Diseases CIP (pain, indifference, congenital, autosomal recessive (CIP))
EIEE-6 (encephalopathy, epileptic, early infantile, type 6 (EIEE-6, Dravet syndrome))
GEFSP-7 (epilepsy, generalized, with febrile seizures plus, type 7 (GEFSP-7))
PEPD (pain disorder, paroxysmal, extreme (PEPD))
erythromelalgia, primary
GeneCards SCN9A
GeneTests SCN9A

Active transcripts




NCBI ID     

NCBI Protein ID     

00018525 2 sodium channel, voltage-gated, type IX, alpha subunit NM_002977.3 NP_002968.1 312

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