SNRNP40 small nuclear ribonucleoprotein U5 subunit 40
Gene ID: 9410, updated on 3-Nov-2024Gene type: protein coding
Also known as: 40K; SPF38; WDR57; PRP8BP; HPRP8BP; PRPF8BP
- See all available tests in GTR for this gene
- Go to complete Gene record for SNRNP40
- Go to Variation Viewer for SNRNP40 variants
Summary
This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent. GeneReviews: Not available |
Genomic context
- Location:
- 1p35.2
- Sequence:
- Chromosome: 1; NC_000001.11 (31259568..31296788, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SNRNP40 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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