Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C45989> ?p ?o ?g. }
- NCIT_C45989 IAO_0000115 "Human CYP2C19*6 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*6 protein. The CYP2C19*6 allele exhibits a clinically-relevant SNP (c.395G>A) in exon 3 that results in a R132Q coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*6 protein." @default.
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- NCIT_C45989 hasExactSynonym "CYP2C19*6 Allele" @default.
- NCIT_C45989 hasExactSynonym "CYP2C19*6" @default.
- NCIT_C45989 hasExactSynonym "CYP2C19, R132Q" @default.
- NCIT_C45989 hasExactSynonym "CYP2C19, c.395G>A" @default.
- NCIT_C45989 hasExactSynonym "CYP2C19, m5" @default.
- NCIT_C45989 hasExactSynonym "Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*6 Allele" @default.
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