Details for Gene COG1

GENE NAME COG1
CHROMOSOME 17
ENSEMBL ID ENSG00000166685
ENTREZ ID 9382
UNIPROT ACCESSION NUMBER Q8WTW3
GO MOLECULAR FUNCTION protein binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-6807878; R-HSA-948021; R-HSA-446203; R-HSA-5653656; R-HSA-6811442; R-HSA-6811438; R-HSA-6811440; R-HSA-199991; R-HSA-199977; R-HSA-597592; R-HSA-392499
1 combination linked to COG1 OLI340
1 variant linked to COG1 COG1:c.739C>T, p.His247Tyr
1 disease linked to COG1 Isolated Klippel-Feil syndrome

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