GENE NAME | SDCCAG8 |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000054282 |
UNIPROT ACCESSION NUMBER | Q86SQ7 |
GO MOLECULAR FUNCTION | ['protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1640170; R-HSA-1852241; R-HSA-2565942; R-HSA-380259; R-HSA-380270; R-HSA-380284; R-HSA-380287; R-HSA-380320; R-HSA-453274; R-HSA-5617833; R-HSA-5620912; R-HSA-68877; R-HSA-68886; R-HSA-69275; R-HSA-69278; R-HSA-8854518 |
4 combinations linked to SDCCAG8 | OLI613; OLI1669; OLI1660; OLI1455 |
4 variants linked to SDCCAG8 | SDCCAG8:c.1594G>A, p.Glu532Lys; SDCCAG8:c.245G>T, p.Arg82Leu; SDCCAG8:c.278C>T, p.Pro93Leu; SDCCAG8:c.1531C>A, p.Gln511Lys |
1 disease linked to SDCCAG8 | Bardet-Biedl syndrome |