RPS10 wt Allele

Preferred Label : RPS10 wt Allele;

NCIt synonyms : Ribosomal Protein S10 wt Allele; S10; DBA9; MGC88819;

NCIt definition : Human RPS10 wild-type allele is located in the vicinity of 6p21.31 and is approximately 9 kb in length. This allele, which encodes 40S ribosomal protein S10, plays a role in 40S ribosome assembly. Mutation of the gene is associated with Diamond-Blackfan anemia 9.;

NCI Metathesaurus CUI : CL1643130;

GenBank Accession Number : U14972;

Details

Origin ID

C177139;

UMLS CUI

C5443904;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 9 [DO Concept]
- ribosomal protein S10 [ORDO Gene]
OMIM relation
- Ribosomal protein s10 [OMIM gene]
See also inter- (CISMeF)
- Diamond-blackfan anemia 9 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.31 [NCIt concept]
gene_is_element_in_pathway
- Ribosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Synthesis [NCIt concept]
- RNA Binding [NCIt concept]
- Translation Initiation [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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