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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C46058> ?p ?o ?g. }

• NCIT_C46058 IAO_0000115 "Human CYP2D6*41 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*41 protein. The CYP2D6*41 allele exhibits clinically-relevant 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 decrease the enzymatic activity of the cytochrome P450 2D6*41 protein." @default.
• NCIT_C46058 NCIT_NHC0 "C46058" @default.
• NCIT_C46058 NCIT_P100 "124030" @default.
• NCIT_C46058 NCIT_P102 "NM_000106" @default.
• NCIT_C46058 NCIT_P106 "Gene or Genome" @default.
• NCIT_C46058 NCIT_P107 "CYP2D6*41 Allele" @default.
• NCIT_C46058 NCIT_P108 "CYP2D6*41 Allele" @default.
• NCIT_C46058 NCIT_P171 "11037799" @default.
• NCIT_C46058 NCIT_P171 "15289790" @default.
• NCIT_C46058 NCIT_P171 "15768052" @default.
• NCIT_C46058 NCIT_P207 "C1705362" @default.
• NCIT_C46058 NCIT_P322 "CTRP" @default.
• NCIT_C46058 NCIT_P366 "CYP2D6_41_Allele" @default.
• NCIT_C46058 NCIT_P96 "Cytochrome P450 2D6" @default.
• NCIT_C46058 NCIT_P98 "Ethnicity Association: African American; Caucasian" @default.
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• NCIT_C46058 NCIT_R41 NCIT_C14182 @default.
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• NCIT_C46058 NCIT_R41 NCIT_C25796 @default.
• NCIT_C46058 NCIT_R41 NCIT_C79740 @default.
• NCIT_C46058 normalizedInformationContent "100" @default.
• NCIT_C46058 referenceCount "1" @default.
• NCIT_C46058 hasExactSynonym "CYP2D6*41 Allele" @default.
• NCIT_C46058 hasExactSynonym "CYP2D6*41" @default.
• NCIT_C46058 hasExactSynonym "CYP2D6, R296C, S486T" @default.
• NCIT_C46058 hasExactSynonym "CYP2D6, g.2850C>T, g.4180G>C" @default.
• NCIT_C46058 hasExactSynonym "Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*41 Allele" @default.
• NCIT_C46058 inSubset NCIT_C116977 @default.
• NCIT_C46058 inSubset NCIT_C142799 @default.
• NCIT_C46058 inSubset NCIT_C142800 @default.
• NCIT_C46058 type Class @default.
• NCIT_C46058 isDefinedBy ncit.owl @default.
• NCIT_C46058 label "CYP2D6*41 Allele" @default.
• NCIT_C46058 subClassOf B1609424dbb2b649af09e09bf641cdcb2 @default.

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