C46038Level 6
CYP1A2*7 Allele
**Semantic type:** Gene or Genome
**Definition:** Human CYP1A2*7 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*7 protein. The CYP1A2*7 allele exhibits a clinically-relevant SNP (g.3534G>A) in the 5' splice-site consensus sequence of intron 6 that is predicted to result in abnormal mRNA splicing. This alteration decreases the in vivo enzymatic activity of the cytochrome P450 1A2*7 protein.
**Synonyms:** - CYP1A2*7 - CYP1A2, g.3534G>A - Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*7 Allele
GET
/api/v1/systems/nci_thesaurus/nodes/C46038Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.