Preferred Label : CYP2D6*17 Allele;
NCIt synonyms : CYP2D6, g.1023C T, g.2850C T; CYP2D6Z; Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*17 Allele; CYP2D6*17; CYP2D6, T107I, R296C; CYP2D6 17 Allele;
NCIt definition : Human CYP2D6*17 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*17 protein. The CYP2D6*17 allele exhibits two clinically-relevant
SNPs (g.1023C T, g.2850C T) that result in coding changes (T107I, R296C). These alterations
decrease the enzymatic activity of the cytochrome P450 2D6*17 protein.;
NCIt note : Ethnicity Association: Asian, African American; Black African; Caucasian; Middle Eastern;
GenBank Accession Number : NM_000106;
PubMed : 8971426; 9415713;
Origin ID : C45618;
UMLS CUI : C1707213;
OMIM relation
- Semantic type(s)
- allele_has_abnormality
- allele_has_activity
- allele_in_chromosomal_location
- allele_plays_altered_role_in_process
- concept_is_in_subset
- gene_found_in_organism
- gene_plays_role_in_process
