Terminology Service for NFDI4Health
CYP3A5*10 Allele
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http://purl.obolibrary.org/obo/NCIT_C46025
Human CYP3A5*10 allele is located in the vicinity of 7q21.1 and is approximately 32 kb in length. This allele, a variant form of the human CYP3A5 wild-type allele, encodes cytochrome P450 3A5*10 protein. This allele exhibits a clinically-relevant SNP (g.6986A>G) in exon 10 that causes a splicing defect. The resulting alteration in protein sequence almost completely abolishes the enzymatic activity of the cytochrome P450 3A5*10 protein. [ ]
Term info
Label
CYP3A5*10 Allele
Synonyms
- CYP3A5*10
- CYP3A5*10 Allele
- CYP3A5, g.6986A>G
- Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*10 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: Caucasian
Display Name
CYP3A5*10 Allele
GenBank Accession Number
NM_000777
Gene Encodes Product
Cytochrome P450 3A5
Legacy Concept Name
CYP3A5_10_Allele
OMIM Number
605325
Preferred Name
CYP3A5*10 Allele
PubMedID Primary Reference
12398984
SNP ID
rs776746
Semantic Type
Gene or Genome
UMLS CUI
C1706121
code
C46025
Term relations
Subclass of:
- CYP3A5 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_In_Chromosomal_Location some 7q22.1
- Allele_Has_Abnormality some Adenosine to Guanosine Transition Abnormality
- Allele_Has_Activity some Decreased Biochemical Activity
- Allele_Has_Abnormality some Transition Mutation
- Allele_Has_Abnormality some Splice-Site Mutation