SLC30A8
solute carrier family 30 member 8
Summary
The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs565543218 | 8:117,969,600 | C/T | — | — |
| rs531347476 | 8:118,024,315 | C/A | — | — |
| rs3019885 | 8:118,025,645 | T/G | upstream gene variant | — |
| rs147643814 | 8:118,070,958 | G/A | — | — |
| rs7815720 | 8:118,089,513 | G/A | intron variant | — |
| rs4876702 | 8:118,121,734 | A/G | intron variant | — |
| rs73702967 | 8:118,129,021 | A/G | intron variant | — |
| rs10088883 | 8:118,141,288 | C/T | intron variant | — |
| rs73317613 | 8:118,143,152 | C/A | upstream gene variant | — |
| rs555484215 | 8:118,147,630 | C/T | — | likely benign |
| rs11989843 | 8:118,150,993 | A/G | intron variant | — |
| rs7817754 | 8:118,154,981 | A/T | — | — |
| rs144023942 | 8:118,159,193 | T/C | — | benign |
| rs141876609 | 8:118,159,230 | T/C | — | uncertain significance |
| rs143592691 | 8:118,159,253 | G/T | — | uncertain significance |
| rs148043363 | 8:118,159,254 | C/A | — | uncertain significance |
| rs1246625721 | 8:118,159,293 | A/C | — | likely benign |
| rs778566684 | 8:118,159,356 | G/A | — | uncertain significance |
| rs114650878 | 8:118,159,388 | C/T | — | likely benign |
| rs4876703 | 8:118,163,372 | C/A | intron variant | — |
| rs778716564 | 8:118,165,303 | G/A | — | uncertain significance |
| rs200185429 | 8:118,165,323 | C/T | stop gained | protective |
| rs60461843 | 8:118,166,327 | T/A | intron variant | — |
| rs73317647 | 8:118,170,004 | C/T | — | benign |
| rs2537129141 | 8:118,170,013 | T/C | — | likely benign |
| rs751350884 | 8:118,170,055 | T/C | — | uncertain significance |
| rs2537141678 | 8:118,173,996 | C/T | — | uncertain significance |
| rs141215536 | 8:118,174,026 | G/A | — | uncertain significance |
| rs372965000 | 8:118,174,036 | A/G | — | uncertain significance |
| rs149524118 | 8:118,174,050 | G/A | — | uncertain significance |
| rs1586608234 | 8:118,174,076 | T/C | — | likely benign |
| rs1422413969 | 8:118,174,118 | C/G | — | uncertain significance |
| rs2537146938 | 8:118,175,686 | C/T | — | uncertain significance |
| rs2537147026 | 8:118,175,695 | C/T | — | uncertain significance |
| rs1360609984 | 8:118,183,278 | C/T | — | uncertain significance |
| rs774398640 | 8:118,183,326 | G/A | — | uncertain significance |
| rs757010863 | 8:118,183,371 | A/G | — | conflicting classifications of pathogenicity |
| rs999243796 | 8:118,184,780 | A/G | — | uncertain significance |
| rs13266634 | 8:118,184,783 | C/T | missense variant | risk factor |
| rs16889462 | 8:118,184,784 | G/A | — | benign |
| rs770454987 | 8:118,184,790 | G/C | — | uncertain significance |
| rs772589300 | 8:118,184,802 | G/A | — | uncertain significance |
| rs1304454124 | 8:118,184,890 | C/T | — | likely benign |
| rs3802177 | 8:118,185,025 | G/A | 3 prime UTR variant | — |
| rs2466295 | 8:118,185,041 | C/T | 3 prime UTR variant | — |
| rs11558471 | 8:118,185,733 | A/G | 3 prime UTR variant | — |
| rs2466293 | 8:118,185,938 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.