ERCC1 wt Allele

Preferred Label : ERCC1 wt Allele;

NCIt synonyms : UV20; Excision Repair Cross-Complementation Group 1 Gene; RAD10; COFS4; Excision-Repair, Complementing Defective, In Chinese Hamster, 1 Gene; DNA Repair Defect UV-20 of Chinese Hamster Ovary Cells, Complementation of Gene; ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit wt Allele; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 1 (includes overlapping antisense sequence) Gene;

NCIt definition : Human ERCC1 wild-type allele is located within 19q13.2-q13.3 and is approximately 14 kb in length. This allele, which encodes DNA excision repair protein ERCC-1, plays a role in ultraviolet cross-link repair and nucleotide excision repair.;

GenBank Accession Number : NM_001983;

Details

Origin ID

C50980;

UMLS CUI

C1707865;

OMIM relation
- Ercc excision repair 1, endonuclease noncatalytic subunit [OMIM gene]
See also inter- (CISMeF)
- Cerebrooculofacioskeletal syndrome 4 [OMIM Phenotype]
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_has_physical_location
- 19: 50619017-50604712 [NCIt concept]
gene_in_chromosomal_location
- 19q13.2-q13.3 [NCIt concept]
gene_is_element_in_pathway
- Nucleotide Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Embryogenesis [NCIt concept]
- Morphogenesis [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]

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