Details for Gene SDCCAG8

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

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