View gene SCN1B

General information
Gene symbol SCN1B
Gene name sodium channel, voltage-gated, type I, beta subunit
Chromosome 19
Chromosomal band -
Imprinted Unknown
Genomic reference NG_013359.1
Transcript reference NM_001037.4, NM_199037.3
Exon/intron information NM_199037.3
Associated with diseases ATFB-13, BRGDA, BRGDA-5, GEFSP-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 116
Unique public DNA variants reported 18
Individuals with public variants 55
Hidden variants 0
Date created May 03, 2013
Date last updated October 29, 2015
Version SCN1B:151029

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 10586
Entrez Gene 6324
PubMed articles SCN1B
OMIM - Gene 600235
OMIM - Diseases ATFB-13 (fibrillation, atrial, familial, type 13 (ATFB-13))
BRGDA-5 (Brugada syndrome, type 5 (BRGDA-5, conduction defect, cardiac, nonspecific))
GEFSP-1 (epilepsy, generalized, with febrile seizures plus, type 1 (GEFSP-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023966 19 sodium channel, voltage-gated, type I, beta, transcript variant b NM_199037.3 NP_950238.1 106
00018516 19 sodium channel, voltage-gated, type I, beta, transcript variant a NM_001037.4 NP_001028.1 10