The SCNN1B gene homepage

General information
Gene symbol SCNN1B
Gene name sodium channel, non-voltage-gated 1, beta subunit
Chromosome 16
Chromosomal band p12.2-p12.1
Imprinted Unknown
Genomic reference NG_011908.1
Transcript reference NM_000336.2, XM_005255467.1
Associated with diseases BESC-1, LIDLS, PHA-1B
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 80
Unique public DNA variants reported 14
Individuals with public variants 35
Hidden variants 8
Date created November 30, -0001
Date last updated September 28, 2016
Version SCNN1B:160928

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 List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:10600
OMIM - Gene 600760
OMIM - Diseases BESC-1 (bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1))
LIDLS (Liddle syndrome (LIDLS))
PHA-1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014036 16 sodium channel, non-voltage-gated 1, beta subunit NM_000336.2 NP_000327.2 80
00037638 16 transcript variant X1 XM_005255467.1 XP_005255524.1 -