SLC38A3 solute carrier family 38 member 3
Gene ID: 10991, updated on 3-Nov-2024Gene type: protein coding
Also known as: G17; SN1; NAT1; SNAT3; DEE102
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC38A3
- Go to Variation Viewer for SLC38A3 variants
Summary
Enables L-amino acid transmembrane transporter activity. Involved in carboxylic acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy 102 | not available |
Genomic context
- Location:
- 3p21.31
- Sequence:
- Chromosome: 3; NC_000003.12 (50205271..50221486)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC38A3 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
- Variation ViewerRelated Variants
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