About: CYP1A2*11 Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • CYP1A2*11 Allele
rdfs:subClassOf
OMIM_Number
  • 124060
GenBank_Accession_Number
  • NM_000761
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP1A2*11 Allele
PubMedID_Primary_Reference
  • 14563787
UMLS_CUI
  • C1707173
Legacy_Concept_Name
  • CYP1A2_11_Allele
FULL_SYN
  • Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*11 AlleleSYNCI
  • CYP1A2, F186LSYNCI
  • CYP1A2, g.558C>ASYNCI
  • CYP1A2*11 AllelePTNCI
  • CYP1A2*11SYNCI
Gene_Encodes_Product
  • Cytochrome P450 1A2
DEFINITION
  • Human CYP1A2*11 allele is located within 15q24 and is approximately 8 kb in length. This allele, a variant form of the CYP1A2 wild-type allele, encodes cytochrome P450 1A2*11 protein. The CYP1A2*11 allele exhibits a clinically-relevant SNP (g.558C>A) in exon 2 that results in a F186L coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 1A2*11 protein.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C46039
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