RPS17 wt Allele

Preferred Label : RPS17 wt Allele;

NCIt synonyms : RPS17L; DBA4; MGC72007; Ribosomal Protein S17 wt Allele; S17; RPS17L1; RPS17L2; Ribosomal Protein S17-Like Gene;

NCIt definition : Human RPS17 wild-type allele is located in the vicinity of 15q25.2 and is approximately 4 kb in length. This allele, which encodes 40S ribosomal protein S17, is involved in the assembly and function of the 40S ribosome. Mutation of the gene is associated with Diamond-Blackfan anemia 4.;

NCI Metathesaurus CUI : CL1643124;

GenBank Accession Number : M18000;

Details

Origin ID

C177142;

UMLS CUI

C5443941;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 4 [DO Concept]
- Diamond-blackfan anemia 4 [OMIM Phenotype]
- Ribosomal protein s17 [OMIM gene]
- ribosomal protein S17 [ORDO Gene]
OMIM relation
- Ribosomal protein s17 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [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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