About: EGF A61G Allele     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • EGF A61G Allele
rdfs:subClassOf
OMIM_Number
  • 131530
GenBank_Accession_Number
  • NM_001963
Semantic_Type
  • Gene or Genome
Preferred_Name
  • EGF A61G Allele
PubMedID_Primary_Reference
  • 17433039
  • 17940864
UMLS_CUI
  • C2699841
SNP_ID
  • rs4444903
EntrezGene_ID
  • 1950
Legacy_Concept_Name
  • EGF_1_Allele
FULL_SYN
  • Epidermal Growth Factor (Beta-Urogastrone) 61*G AlleleSYNCI
  • Epidermal Growth Factor (Beta-Urogastrone) A61G AlleleSYNCI
  • EGF A61G AllelePTNCI
  • EGF61*GSYNCI
  • EGF g. 61 A-G AlleleSYNCI
  • EGF A61GSYNCI
DEFINITION
  • Human EGF A61G allele is located in the vicinity of 4q25 and is approximately 99 kb in length. The A61G allele is a polymorphism in the promoter region of the EGF gene where an adenosine residue is replaced by a guanosine at position 61 in the genomic DNA, which encodes pro-epidermal growth factor precursor protein. This allele may be associated with aberrant expression of the protein and decreased incidence of cirrhosis, hepatocellular carcinoma, malignant melanoma and gastric cancer.NCI
code
  • C78136
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