SV2A synaptic vesicle glycoprotein 2A
Gene ID: 9900, updated on 17-Jun-2024Gene type: protein coding
Also known as: SV2; DEE113; SLC22B1
- See all available tests in GTR for this gene
- Go to complete Gene record for SV2A
- Go to Variation Viewer for SV2A variants
Summary
The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy 113 | not available |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available |
Genomic context
- Location:
- 1q21.2
- Sequence:
- Chromosome: 1; NC_000001.11 (149903318..149917844, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SV2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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