About: CYP2D6*9 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*9 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*9 Allele
PubMedID_Primary_Reference
  • 1844820
  • 8101460
UMLS_CUI
  • C1707231
Legacy_Concept_Name
  • CYP2D6_9_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*9 AlleleSYNCI
  • CYP2D6, K281delSYNCI
  • CYP2D6*9 AllelePTNCI
  • CYP2D6CSYNCI
  • CYP2D6, g.2613delAGASYNCI
  • CYP2D6*9SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2D6
DEFINITION
  • Human CYP2D6*9 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*9 protein. The CYP2D6*9 allele exhibits a deletion of three nucleotides (g.2613delAGA) at the 3' end of exon 5 that results in a K281 deletion during coding. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2D6*9 protein.NCI
DesignNote
  • Ethnicity Association: Asian; Caucasian; Middle Eastern
code
  • C46043
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