SLC24A2
solute carrier family 24 member 2
Summary
This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138630242 | 9:19,516,162 | C/T | — | uncertain significance |
| rs898385986 | 9:19,516,165 | G/T | — | uncertain significance |
| rs199990362 | 9:19,516,288 | C/T | — | uncertain significance |
| rs61745273 | 9:19,516,335 | T/C | — | likely benign |
| rs781570322 | 9:19,516,372 | C/T | — | likely benign |
| rs1469888193 | 9:19,521,027 | A/C | — | uncertain significance |
| rs771710603 | 9:19,528,069 | A/C | — | uncertain significance |
| rs1833522097 | 9:19,528,077 | G/C | — | uncertain significance |
| rs2132659865 | 9:19,528,118 | G/C | — | uncertain significance |
| rs573961700 | 9:19,550,146 | C/T | — | uncertain significance |
| rs762666179 | 9:19,550,263 | C/T | — | uncertain significance |
| rs16937601 | 9:19,555,377 | G/T | intron variant | — |
| rs4977558 | 9:19,555,984 | T/A | intron variant | — |
| rs542962840 | 9:19,573,368 | A/G | — | uncertain significance |
| rs2489086615 | 9:19,573,396 | C/T | — | uncertain significance |
| rs1476444331 | 9:19,573,440 | C/G | — | uncertain significance |
| rs753004230 | 9:19,576,925 | C/T | — | uncertain significance |
| rs757235686 | 9:19,576,948 | C/T | — | uncertain significance |
| rs3780215 | 9:19,579,427 | G/C | — | — |
| rs746253497 | 9:19,619,588 | C/T | — | uncertain significance |
| rs770762176 | 9:19,619,680 | C/T | — | uncertain significance |
| rs199744137 | 9:19,619,683 | G/A | — | uncertain significance |
| rs4258076 | 9:19,664,081 | G/T | intron variant | — |
| rs201026432 | 9:19,680,856 | T/A | — | — |
| rs7036637 | 9:19,695,638 | G/C | intron variant | — |
| rs139378881 | 9:19,760,780 | G/A | intron variant | — |
| rs756290261 | 9:19,785,955 | C/T | — | uncertain significance |
| rs771755386 | 9:19,785,978 | C/T | — | uncertain significance |
| rs2488909641 | 9:19,786,089 | T/C | — | uncertain significance |
| rs762117566 | 9:19,786,245 | G/A | — | uncertain significance |
| rs776025550 | 9:19,786,258 | C/T | — | uncertain significance |
| rs139419786 | 9:19,786,270 | C/T | — | uncertain significance |
| rs1385580855 | 9:19,786,293 | G/A | — | uncertain significance |
| rs372667508 | 9:19,786,503 | G/A | — | uncertain significance |
| rs2488910637 | 9:19,786,530 | C/T | — | uncertain significance |
| rs148865349 | 9:19,786,543 | C/T | — | likely benign |
| rs1292060019 | 9:19,786,608 | G/C | — | uncertain significance |
| rs772990128 | 9:19,786,618 | G/T | — | uncertain significance |
| rs1267083435 | 9:19,786,636 | T/C | — | uncertain significance |
| rs1823186649 | 9:19,786,729 | G/C | — | uncertain significance |
| rs541296276 | 9:19,786,734 | A/G | — | uncertain significance |
| rs754429867 | 9:19,786,753 | G/C | — | uncertain significance |
| rs774196694 | 9:19,786,836 | G/A | — | uncertain significance |
| rs16937883 | 9:20,098,711 | A/G | intergenic variant | — |
| rs559736252 | 9:20,124,938 | G/T | — | — |
| rs2039461 | 9:20,145,988 | T/C | intergenic variant | — |
| rs321222 | 9:20,224,228 | G/A | intergenic variant | — |
| rs321217 | 9:20,235,499 | A/T | intergenic variant | — |
| rs10117511 | 9:20,301,210 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.