SLC3A1 solute carrier family 3 member 1
Gene ID: 6519, updated on 27-Nov-2024Gene type: protein coding
Also known as: D2H; ATR1; NBAT; RBAT; CSNU1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC3A1
- Go to Variation Viewer for SLC3A1 variants
Summary
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (44275480..44322437)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC3A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CYSdb: Cystinuria Locus Specific Database
- 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
- SLC3A1 database
- Variation ViewerRelated Variants
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