Preferred Label : CYP2C8*3 Allele;
NCIt synonyms : CYP2C8, c.416G A, c.1196A G; Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*3 Allele; CYP2C8*3; CYP2C8, R139K, K399R; CYP2C8 3 Allele;
NCIt definition : Human CYP2C8*3 allele is located in the vicinity of 10q23.33 and is approximately
33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes
cytochrome P450 2C8*3 protein. The CYP2C8*3 allele exhibits clinically-relevant SNPs
(c.416G A, c.1196A G) in exons 3 and 8 that result in coding changes (R139K, K399R).
These alterations in protein sequence severely decrease the enzymatic activity of
the cytochrome P450 2C8*3 protein.;
NCIt note : Ethnicity Association: Caucasian;
GenBank Accession Number : NM_000770;
SNP ID : rs11572080; rs10509681;
PubMed : 12429347; 11668219;
Origin ID : C46031;
UMLS CUI : C1707190;
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
