Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46038> ?p ?o ?g. }
- NCIT_C46038 IAO_0000115 "Human CYP1A2*7 allele is located within 15q24 and is approximately 8 kb in length. This allele, a variant form of the CYP1A2 wild-type allele, encodes cytochrome P450 1A2*7 protein. The CYP1A2*7 allele exhibits a clinically-relevant SNP (g.3534G>A) in the 5' splice-site consensus sequence of intron 6 that is predicted to result in abnormal mRNA splicing. This alteration decreases the in vivo enzymatic activity of the cytochrome P450 1A2*7 protein." @default.
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- NCIT_C46038 hasExactSynonym "CYP1A2*7 Allele" @default.
- NCIT_C46038 hasExactSynonym "CYP1A2*7" @default.
- NCIT_C46038 hasExactSynonym "CYP1A2, g.3534G>A" @default.
- NCIT_C46038 hasExactSynonym "Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*7 Allele" @default.
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