Terminology Service for NFDI4Health
CYP2C19*6 Allele
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http://purl.obolibrary.org/obo/NCIT_C45989
Human CYP2C19*6 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*6 protein. The CYP2C19*6 allele exhibits a clinically-relevant SNP (c.395G>A) in exon 3 that results in a R132Q coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*6 protein. [ ]
Term info
Label
CYP2C19*6 Allele
Synonyms
- CYP2C19*6
- CYP2C19*6 Allele
- CYP2C19, R132Q
- CYP2C19, c.395G>A
- CYP2C19, m5
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*6 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: Caucasian
Display Name
CYP2C19*6 Allele
GenBank Accession Number
NM_000769
Gene Encodes Product
Cytochrome P450 2C19
Legacy Concept Name
CYP2C19_6_Allele
OMIM Number
124020
Preferred Name
CYP2C19*6 Allele
PubMedID Primary Reference
9732415
Semantic Type
Gene or Genome
UMLS CUI
C1707185
code
C45989
Term relations
Subclass of:
- CYP2C19 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_In_Chromosomal_Location some 10q24.1-q24.3
- Allele_Has_Abnormality some Guanosine to Adenosine Transition Abnormality
- Allele_Has_Abnormality some Transition Mutation
- Allele_Has_Activity some Absence of Biochemical Activity