CYP2C19*7 Allele
Human CYP2C19*7 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*7 protein. The CYP2C19*7 allele exhibits a clinically-relevant SNP (c.IVS5+2T>A) in the invariant GT at the 5' donor splice site of intron 5 that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2C19*7 protein. [ ]
Term info
CYP2C19*7 Allele
- CYP2C19*7
- CYP2C19*7 Allele
- CYP2C19, c.IVS5+2T>A
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*7 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Caucasian
CYP2C19*7 Allele
NM_000769
Cytochrome P450 2C19
CYP2C19_7_Allele
124020
CYP2C19*7 Allele
10411572
Gene or Genome
C1707186
C46009
Term relations
- CYP2C19 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Thymidine to Adenosine Transversion Abnormality
- Allele_In_Chromosomal_Location some 10q24.1-q24.3
- Allele_Has_Abnormality some Transversion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity
- Allele_Has_Abnormality some Splice-Site Mutation