CYP2C19*12 Allele
Human CYP2C19*12 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*12 protein. The CYP2C19*12 allele exhibits a clinically-relevant SNP (c.1473A>C) in exon 9 that results in a X491C coding change. This alteration yields an unstable cytochrome P450 2C19*12 protein that is predicted to have an additional 26 amino acids. [ ]
Term info
CYP2C19*12 Allele
- CYP2C19*12
- CYP2C19*12 Allele
- CYP2C19, X491C
- CYP2C19, c.1473A>C
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*12 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: African American
CYP2C19*12 Allele
NM_000769
Cytochrome P450 2C19
CYP2C19_12_Allele
124020
CYP2C19*12 Allele
12464799
Gene or Genome
C1707179
C46013
Term relations
- CYP2C19 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Has_Abnormality some Adenosine to Cytosine Transversion Abnormality
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_In_Chromosomal_Location some 10q24.1-q24.3
- Allele_Has_Abnormality some Transversion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity