SNRPN wt Allele

Preferred Label : SNRPN wt Allele;

NCIt synonyms : Small Nuclear Ribonucleoprotein Polypeptide N wt Allele;

NCIt definition : Human SNRPN wild-type allele is located in the vicinity of 15q11.2 and is approximately 596 kb in length. This allele, which encodes small nuclear ribonucleoprotein-associated protein N, may play a role in mRNA splicing. Mutations in this gene are associated with Prader-Willi Syndrome.;

NCIt note : Cases of Prader-Willi syndrome result from loss of function of genes in the 15q12 region expressed exclusively from the paternal chromosome, suggesting that deficits in SNRPN may play a role in this etiology.;

GenBank Accession Number : L80005;

Details

Origin ID

C75577;

UMLS CUI

C2699251;

OMIM relation
- Small nuclear ribonucleoprotein polypeptide n [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q11.2 [NCIt concept]
gene_plays_role_in_process
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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