RPS7 wt Allele

Preferred Label : RPS7 wt Allele;

NCIt synonyms : DBA8; S7; eS7; Ribosomal Protein S7 wt Allele;

NCIt definition : Human RPS7 wild-type allele is located in the vicinity of 2p25.3 and is approximately 6 kb in length. This allele, which encodes 40S ribosomal protein S7, is involved in 40S ribosome structure and activity. Splice site variants are associated with Diamond-Blackfan anemia 8.;

NCI Metathesaurus CUI : CL1643129;

GenBank Accession Number : NM_001011;

Details

Origin ID

C177136;

UMLS CUI

C5443945;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 8 [DO Concept]
- Diamond-blackfan anemia 8 [OMIM Phenotype]
- Proteasome 26s subunit, atpase, 2 [OMIM gene]
- ribosomal protein S7 [ORDO Gene]
OMIM relation
- Ribosomal protein s7 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p25.3 [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) :

You can consult :

recommendations
documents concerning education
documents for patients