TRIP13 wt Allele

Preferred Label : TRIP13 wt Allele;

NCIt synonyms : PCH2; 16E1BP; Thyroid Hormone Receptor Interactor 13 wt Allele;

NCIt definition : Human TRIP13 wild-type allele is located in the vicinity of 5p15.33 and is approximately 27 kb in length. This allele, which encodes pachytene checkpoint protein 2 homolog protein, plays a role in chromosome recombination in meiosis.;

GenBank Accession Number : : L40384;

Details

Origin ID

C118329;

UMLS CUI

C3890721;

Automatic exact mappings (from CISMeF team)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- Thyroid hormone receptor interactor 13 [OMIM gene]
- pontocerebellar hypoplasia type 2 [MeSH Supplementary Concept]
- thyroid hormone receptor interactor 13 [ORDO Gene]
OMIM relation
- Thyroid hormone receptor interactor 13 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p15.33 [NCIt concept]
gene_plays_role_in_process
- Double Strand Break Repair [NCIt concept]
- Gametogenesis [NCIt concept]
- Hydrolysis [NCIt concept]
- Meiotic Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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