Preferred Label : SMARCB1 wt Allele;
NCIt synonyms : hSNF5/INI1 Gene; SNF5L1; Protein Phosphatase 1, Regulatory Subunit 144 Gene; RDT; INI1; hSNFS; BAF47; SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily
B, Member 1 wt Allele; Sfh1p; SNF5; Snr1; SWNTS1; SNF5, Yeast, Homolog of Gene; RTPS1; MRD15; PPP1R144;
NCIt definition : Human SMARCB1 wild-type allele is located in the vicinity of 22q11.2 and is approximately
48 kb in length. This allele, which encodes SWI/SNF related, matrix associated, actin
dependent regulator of chromatin, subfamily B, member 1 protein, plays a role in both
the promotion of transcriptional activity and the modification of chromatin structure.
The gene is mutated in malignant rhabdoid tumors and many epithelioid sarcomas.;
GenBank Accession Number : NM_003073;
Origin ID : C52113;
UMLS CUI : C1704461;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
