| Entrez Gene ID | 6547 |
|---|---|
| Official Gene Symbol | SLC8A3 (GeneCards) |
| Full name | solute carrier family 8 member A3 |
| Location | 14q24.2 |
| Other ids | Vega : OTTHUMG00000152342 MIM : 607991 HGNC : HGNC:11070 Ensembl : ENSG00000100678 |
| Other names | NCX3 |
| Summary | This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18013 | 6547 | SLC8A3 | 14 | 70531747 | 70531747 | Asymptomatic | HiSeq X Ten |
| 18150 | 6547 | SLC8A3 | 14 | 70665482 | 70665482 | Asymptomatic | HiSeq X Ten |
| 18252 | 6547 | SLC8A3 | 14 | 70613346 | 70613346 | Asymptomatic | HiSeq X Ten |
| 29695 | 6547 | SLC8A3 | 14 | 70517735 | 70517735 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |