About: POLH wt 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
  • POLH wt Allele
rdfs:subClassOf
OMIM_Number
  • 603968
GenBank_Accession_Number
  • AB024313
Semantic_Type
  • Gene or Genome
Preferred_Name
  • POLH wt Allele
UMLS_CUI
  • C2984133
EntrezGene_ID
  • 5429
HGNC_ID
  • HGNC:9181
FULL_SYN
  • POLH wt AllelePTNCI
  • XPVSYNCI
  • XP-VSYNCI
  • RAD30SYNCI
  • RAD30ASYNCI
  • Polymerase (DNA Directed), Eta wt AlleleSYNCI
  • FLJ16395SYNCI
  • FLJ21978SYNCI
DEFINITION
  • NCIHuman POLH wild-type allele is located in the vicinity of 6p21.1 and is approximately 44 kb in length. This allele, which encodes DNA polymerase eta protein, is involved in the mediation of the repair of UV-damaged DNA. Mutation of the gene is associated with xeroderma pigmentosum variant type.
code
  • C91286
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