The SCNN1A gene homepage

General information
Gene symbol SCNN1A
Gene name sodium channel, non-voltage-gated 1 alpha subunit
Chromosome 12
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_011945.1
Transcript reference NM_001038.5, NM_001159575.1, NM_001159576.1
Associated with diseases BESC-2, PHA-1B
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 89
Unique public DNA variants reported 13
Individuals with public variants 35
Hidden variants 25
Date created November 30, -0001
Date last updated September 28, 2016
Version SCNN1A: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:10599
OMIM - Gene 600228
OMIM - Diseases BESC-2 (bronchiectasis, with/without elevated sweat chloride, type 2 (BESC-2))
PHA-1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026668 12 transcript variant 3 NM_001159575.1 NP_001153047.1 89
00026669 12 transcript variant 1 NM_001038.5 NP_001029.1 89
00026670 12 transcript variant 2 NM_001159576.1 NP_001153048.1 89