Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46045> ?p ?o ?g. }
- NCIT_C46045 IAO_0000115 "Human CYP2D6*12 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*12 protein. The CYP2D6*12 allele exhibits a clinically-relevant SNP (g.124G>A) in exon 1 that results in a G42R coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2D6*12 protein." @default.
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- NCIT_C46045 hasExactSynonym "CYP2D6*12 Allele" @default.
- NCIT_C46045 hasExactSynonym "CYP2D6*12" @default.
- NCIT_C46045 hasExactSynonym "CYP2D6, G42R" @default.
- NCIT_C46045 hasExactSynonym "CYP2D6, g.124G>A" @default.
- NCIT_C46045 hasExactSynonym "Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*12 Allele" @default.
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