POLH wt Allele

Preferred Label : POLH wt Allele;

NCIt synonyms : Polymerase (DNA Directed), Eta wt Allele; FLJ16395; FLJ21978; RAD30A; RAD30; XP-V; XPV; Polymerase, DNA, Eta Gene; RAD30, S. cerevisiae, Homolog of, A Gene;

NCIt definition : Human 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.;

GenBank Accession Number : AB024313;

Details

Origin ID

C91286;

UMLS CUI

C2984133;

OMIM relation
- Polymerase, dna, eta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.1 [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Polymerization [NCIt concept]

Keyword's position in hierarchy(ies) :

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