About: CYP3A5*10 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP3A5*10 Allele
rdfs:subClassOf
OMIM_Number
  • 605325
GenBank_Accession_Number
  • NM_000777
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP3A5*10 Allele
PubMedID_Primary_Reference
  • 12398984
UMLS_CUI
  • C1706121
SNP_ID
  • rs776746
Legacy_Concept_Name
  • CYP3A5_10_Allele
FULL_SYN
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*10 AlleleSYNCI
  • CYP3A5*10 AllelePTNCI
  • CYP3A5, g.6986A>GSYNCI
  • CYP3A5*10SYNCI
Gene_Encodes_Product
  • Cytochrome P450 3A5
DEFINITION
  • 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.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46025
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