Terminology Service for NFDI4Health
CYP2C19*2 Allele
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http://purl.obolibrary.org/obo/NCIT_C45600
Human CYP2C19*2 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*2 protein. The CYP2C19*2 allele exhibits a clinically-relevant SNP (c.681G>A) in exon 5 that causes a splicing defect; this alteration results in a truncated cytochrome P450 2C19*2 protein that is enzymatically inactive. [ ]
Term info
Label
CYP2C19*2 Allele
Synonyms
- CYP2C19*2
- CYP2C19*2 Allele
- CYP2C19, c.681G>A
- CYP2C19, m1
- CYP2C19, m1A
- CYP2C19, m1B
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*2 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: African American; Asian; Black African; Caucasian; Middle Eastern
Display Name
CYP2C19*2 Allele
GenBank Accession Number
NM_000769
Gene Encodes Product
Cytochrome P450 2C19
Legacy Concept Name
CYP2C19_2_Allele
OMIM Number
124020
Preferred Name
CYP2C19*2 Allele
PubMedID Primary Reference
10022751, 7969038
SNP ID
rs4244285
Semantic Type
Gene or Genome
UMLS CUI
C1707181
code
C45600
Term relations
Subclass of:
- CYP2C19 Gene
- Allele_Has_Abnormality some Frameshift Mutation
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Protein Truncation Abnormality
- 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
- Allele_Has_Abnormality some Splice-Site Mutation