Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46035> ?p ?o ?g. }
- NCIT_C46035 IAO_0000115 "Human CYP2C8*7 allele is located in the vicinity of 10q23.33 and is approximately 33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes cytochrome P450 2C8*7 protein. The CYP2C8*7 allele exhibits a clinically-relevant SNP (c.556C>T) in exon 4 that results in a R186X coding change. This alteration yields a truncated cytochrome P450 2C8*7 protein that is enzymatically inactive." @default.
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- NCIT_C46035 hasExactSynonym "CYP2C8*7 Allele" @default.
- NCIT_C46035 hasExactSynonym "CYP2C8*7" @default.
- NCIT_C46035 hasExactSynonym "CYP2C8, R186X" @default.
- NCIT_C46035 hasExactSynonym "CYP2C8, c.556C>T" @default.
- NCIT_C46035 hasExactSynonym "Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*7 Allele" @default.
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