Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46040> ?p ?o ?g. }
- NCIT_C46040 IAO_0000115 "Human CYP2D6*2 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*2 protein. The majority of haplotypes of the CYP2D6*2 allele exhibit SNPs (g.2850C>T; g.4180G>C) in exons 6 and 9 that result in R296C and S486T coding changes. These alterations in protein sequence have no significant effect on the enzymatic activity of the cytochrome P450 2D6*2 protein." @default.
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- NCIT_C46040 hasExactSynonym "CYP2D6*2 Allele" @default.
- NCIT_C46040 hasExactSynonym "CYP2D6*2" @default.
- NCIT_C46040 hasExactSynonym "CYP2D6, R296C, S486T" @default.
- NCIT_C46040 hasExactSynonym "CYP2D6, g.2850C>T, g.4180G>C" @default.
- NCIT_C46040 hasExactSynonym "CYP2D6L" @default.
- NCIT_C46040 hasExactSynonym "Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*2 Allele" @default.
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