Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46043> ?p ?o ?g. }
- NCIT_C46043 IAO_0000115 "Human CYP2D6*9 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*9 protein. The CYP2D6*9 allele exhibits a deletion of three nucleotides (g.2613delAGA) at the 3' end of exon 5 that results in a K281 deletion during coding. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2D6*9 protein." @default.
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- NCIT_C46043 hasExactSynonym "CYP2D6*9 Allele" @default.
- NCIT_C46043 hasExactSynonym "CYP2D6*9" @default.
- NCIT_C46043 hasExactSynonym "CYP2D6, K281del" @default.
- NCIT_C46043 hasExactSynonym "CYP2D6, g.2613delAGA" @default.
- NCIT_C46043 hasExactSynonym "CYP2D6C" @default.
- NCIT_C46043 hasExactSynonym "Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*9 Allele" @default.
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- NCIT_C46043 label "CYP2D6*9 Allele" @default.
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