SLC30A2
solute carrier family 30 member 2
Summary
The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116656369 | 1:26,365,433 | C/T | downstream gene variant | — |
| rs2124419907 | 1:26,365,664 | C/T | — | uncertain significance |
| rs35623192 | 1:26,365,752 | G/C | — | uncertain significance |
| rs2522673106 | 1:26,365,769 | A/G | — | uncertain significance |
| rs149723161 | 1:26,365,782 | C/T | — | uncertain significance |
| rs1233216949 | 1:26,366,296 | C/G | — | uncertain significance |
| rs1185652351 | 1:26,366,314 | C/G | — | uncertain significance |
| rs35925054 | 1:26,366,320 | A/G | — | likely benign |
| rs864622019 | 1:26,369,117 | C/T | — | uncertain significance |
| rs373747848 | 1:26,369,123 | C/G | — | uncertain significance |
| rs760380190 | 1:26,369,156 | C/T | — | uncertain significance |
| rs754255821 | 1:26,369,157 | G/A | — | likely benign |
| rs1219015034 | 1:26,369,199 | T/C | — | uncertain significance |
| rs185398527 | 1:26,371,500 | C/T | — | pathogenic |
| rs368255248 | 1:26,371,544 | C/T | — | uncertain significance |
| rs587776926 | 1:26,371,598 | T/C | missense variant | pathogenic |
| rs2522698482 | 1:26,371,613 | C/T | — | uncertain significance |
| rs2522698577 | 1:26,371,632 | T/C | — | uncertain significance |
| rs2522698871 | 1:26,371,683 | C/T | — | uncertain significance |
| rs35235055 | 1:26,371,691 | A/G | — | benign |
| rs1383240690 | 1:26,372,377 | T/C | — | uncertain significance |
| rs146020822 | 1:26,372,389 | C/T | — | likely benign |
| rs3008217 | 1:26,373,694 | C/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.