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
Exon/intron information NM_000336.2 exon/intron table
Associated with diseases BESC-1, LIDLS, PHA-1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Abul Kalam Azad
Total number of public variants reported 48
Unique public DNA variants reported 38
Individuals with public variants 25
Hidden variants 1
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 September 17, 2021
Version SCNN1B:210917

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_000336.2.
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
HGNC 10600
Entrez Gene 6338
PubMed articles SCNN1B
OMIM - Gene 600760
OMIM - Diseases BESC-1 (bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1))
LIDLS (syndrome, Liddle (LIDLS))
PHA-1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B))
GeneCards SCNN1B
GeneTests SCNN1B
Orphanet SCNN1B

Active transcripts




NCBI ID     

NCBI Protein ID     

00018530 16 sodium channel, nonvoltage-gated 1, beta NM_000336.2 NP_000327.2 48

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