About: CYP3A5*3 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP3A5*3 Allele
rdfs:subClassOf
OMIM_Number
  • 605325
GenBank_Accession_Number
  • NM_000777
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP3A5*3 Allele
PubMedID_Primary_Reference
  • 11279519
  • 12893984
  • 14961555
UMLS_CUI
  • C1706122
SNP_ID
  • rs776746
Legacy_Concept_Name
  • CYP3A5_3_Allele
FULL_SYN
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*3 AlleleSYNCI
  • CYP3A5*3 AllelePTNCI
  • CYP3A5, g.6986A>GSYNCI
  • CYP3A5*3SYNCI
Gene_Encodes_Product
  • Cytochrome P450 3A5
DEFINITION
  • Human CYP3A5*3 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*3 protein. The CYP3A5*3 allele exhibits a clinically-relevant SNP (g.6986A>G) in intron 3 that results in a splicing defect and premature stop at 102 amino acids. This alteration severely decreases the enzymatic activity of the cytochrome P450 3A5*3 protein.NCI
DesignNote
  • Ethnicity Association: African*; Asian; Caucasian (*samples from African Americans and Black Africans were combined)
code
  • C46021
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