SCNN1G gene homepage

General information
Gene symbol SCNN1G
Gene name sodium channel, non-voltage-gated 1, gamma subunit
Chromosome 16
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_011909.1
Transcript reference NM_001039.3
Exon/intron information NM_001039.3 exon/intron table
Associated with diseases BESC-3, LIDLS, PHA-1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Abul Kalam Azad
Total number of public variants reported 35
Unique public DNA variants reported 23
Individuals with public variants 16
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 09, 2009
Date last updated May 24, 2019
Version SCNN1G:190524

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_001039.3.
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 https://www.LOVD.nl/SCNN1G
External URL Orphanet
HGNC 10602
Entrez Gene 6340
PubMed articles SCNN1G
OMIM - Gene 600761
OMIM - Diseases BESC-3 (bronchiectasis, with/without elevated sweat chloride, type 3 (BESC-3))
LIDLS (syndrome, Liddle (LIDLS))
PHA-1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B))
HGMD SCNN1G
GeneCards SCNN1G
GeneTests SCNN1G


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018532 16 sodium channel, nonvoltage-gated 1, gamma NM_001039.3 NP_001030.2 35


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