SPIDR wt Allele

Preferred Label : SPIDR wt Allele;

NCIt synonyms : Scaffold Protein Involved in DNA Repair wt Allele; KIAA0146; ODG9;

NCIt definition : Human SPIDR wild-type allele is located in the vicinity of 8q11.21 and is approximately 475 kb in length. This allele, which encodes DNA repair-scaffolding protein, plays a role in the localization of proteins involved in double-strand break repair. Nonsense mutations in the gene may be associated with ovarian dysgenesis 9.;

NCI Metathesaurus CUI : CL1798498;

GenBank Accession Number : AK055680;

Details

Origin ID

C189965;

UMLS CUI

C5702710;

OMIM relation
- Scaffolding protein involved in dna repair [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Scaffolding protein involved in dna repair [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Recombination Repair [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients