GENE NAME | SCNN1G |
CHROMOSOME | 16 |
ENSEMBL ID | ENSG00000166828 |
ENTREZ ID | 6340 |
UNIPROT ACCESSION NUMBER | P51170 |
GO MOLECULAR FUNCTION | ligand-gated sodium channel activity; protein binding; sodium channel activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04960; R-HSA-2672351; hsa04742; R-HSA-983712; R-HSA-382551; hsa04742; hsa04960 |
2 combinations linked to SCNN1G | OLI802; OLI804 |
1 variant linked to SCNN1G | SCNN1G:c.549C>T, p.Gly183= |
1 disease linked to SCNN1G | Cystic fibrosis |