About: CYP2D6*13 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*13 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*13 Allele
PubMedID_Primary_Reference
  • 8554938
UMLS_CUI
  • C1707209
Legacy_Concept_Name
  • CYP2D6_13_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*13 AlleleSYNCI
  • CYP2D6*13 AllelePTNCI
  • CYP2D6*13SYNCI
DEFINITION
  • Human CYP2D6*13 allele, located in the vicinity of 22q13.1, is a variant form of the CYP2D6 wild-type allele and encodes cytochrome P450 2D6*13 protein. The CYP2D6*13 allele, resulting from large deletions (approximately 20 kb) in the CYP2D gene cluster, is a hybrid consisting of exon 1 of the CYP2D7 gene and exons 2-9 of the CYP2D6 gene. CYP2D6*13 allele exhibits an insertion in exon 1 which causes a reading frame shift. This alteration yields a truncated cytochrome P450 2D6*13 protein that is enzymatically inactive.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46046
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