Details for Gene SCNN1B

GENE NAME SCNN1B
CHROMOSOME 16
ENSEMBL ID ENSG00000168447
ENTREZ ID 6338
UNIPROT ACCESSION NUMBER P51168
GO MOLECULAR FUNCTION WW domain binding; protein binding; ligand-gated sodium channel activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04960; hsa04742; R-HSA-382551; R-HSA-983712; R-HSA-2672351; hsa04742; hsa04960
2 combinations linked to SCNN1B OLI805; OLI804
2 variants linked to SCNN1B SCNN1B:c.1688G>A, p.Arg563Gln; SCNN1B:c.879C>T, p.Phe293=
1 disease linked to SCNN1B Cystic fibrosis

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