SLC9A8
solute carrier family 9 member A8
Summary
Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750949529 | 20:48,431,577 | A/G | — | uncertain significance |
| rs776437567 | 20:48,431,631 | C/T | — | uncertain significance |
| rs763423190 | 20:48,431,651 | G/A | — | uncertain significance |
| rs17785991 | 20:48,438,761 | T/A | regulatory region variant | — |
| rs2517180519 | 20:48,439,614 | G/C | — | uncertain significance |
| rs746414477 | 20:48,439,642 | C/T | — | uncertain significance |
| rs554150467 | 20:48,456,099 | T/C | — | uncertain significance |
| rs760712061 | 20:48,461,624 | A/G | — | uncertain significance |
| rs375047639 | 20:48,467,374 | A/G | — | uncertain significance |
| rs747968361 | 20:48,467,379 | C/G | — | uncertain significance |
| rs145749915 | 20:48,471,975 | T/C | — | likely benign |
| rs1291289940 | 20:48,472,025 | C/T | — | uncertain significance |
| rs2517433589 | 20:48,479,476 | G/A | — | uncertain significance |
| rs770262671 | 20:48,479,479 | T/A | — | uncertain significance |
| rs760801330 | 20:48,479,516 | A/G | — | uncertain significance |
| rs376467705 | 20:48,479,548 | A/G | — | uncertain significance |
| rs759363309 | 20:48,481,276 | G/A | — | uncertain significance |
| rs138829825 | 20:48,481,304 | C/T | — | uncertain significance |
| rs372889567 | 20:48,491,262 | T/C | — | uncertain significance |
| rs144443273 | 20:48,497,473 | T/G | — | uncertain significance |
| rs761715853 | 20:48,500,446 | G/A | — | uncertain significance |
| rs755746337 | 20:48,500,577 | G/A | — | uncertain significance |
| rs766844887 | 20:48,503,415 | A/C | — | uncertain significance |
| rs375594165 | 20:48,504,377 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.