Preferred Label : CYP1A2*1 Allele;
NCIt synonyms : CYP1A2, g.-3860G A, g.-729C T, g.-163C A; CYP1A2, wild-type; CYP1A2*1; Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*1 Allele; CYP1A2 1 Allele;
NCIt definition : Human CYP1A2*1 allele is located within 15q24 and is approximately 8 kb in length.
This allele, a variant form of the CYP1A2 wild-type allele, encodes cytochrome P450
1A2*1 protein. There are multiple haplotypes of the CYP1A2*1 allele. Both CYP1A2*1C,
which has a SNP (g.-3860G A) in the 5' flanking region of the gene, and CYP1A2*1K,
which has a SNP (g.-729C T) in intron 1, encode cytochrome P450 1A2*1 proteins that
exhibit decreased in vivo enzymatic activity. CYP1A2*1F exhibits a SNP (g.-163C A)
in intron 1 that has been linked with higher enzyme inducibility.;
GenBank Accession Number : NM_000761;
PubMed : 10101295; 12920202;
Origin ID : C46037;
UMLS CUI : C1707174;
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
