SLC39A5
solute carrier family 39 member 5
Summary
The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1274497 | 12:56,625,045 | T/C | — | benign |
| rs116413529 | 12:56,625,068 | T/C | — | benign |
| rs952326477 | 12:56,625,071 | C/T | — | uncertain significance |
| rs145025351 | 12:56,625,081 | A/G | — | uncertain significance |
| rs1040287093 | 12:56,625,097 | C/G | — | likely benign |
| rs147572362 | 12:56,625,114 | T/C | — | benign |
| rs1167082508 | 12:56,625,150 | C/A | — | uncertain significance |
| rs1024891662 | 12:56,625,158 | C/A | — | uncertain significance |
| rs199624584 | 12:56,625,199 | C/G | stop gained | pathogenic |
| rs370643013 | 12:56,625,201 | G/A | — | uncertain significance |
| rs201565086 | 12:56,625,202 | C/T | — | likely benign |
| rs746440215 | 12:56,625,228 | G/A | — | uncertain significance |
| rs148881378 | 12:56,625,235 | G/A | — | likely benign |
| rs377267138 | 12:56,625,237 | G/A | — | uncertain significance |
| rs761896451 | 12:56,625,253 | G/A | — | likely benign |
| rs747889348 | 12:56,625,294 | G/A | — | uncertain significance |
| rs772254496 | 12:56,625,349 | C/T | — | likely benign |
| rs1047196504 | 12:56,626,484 | C/G | — | uncertain significance |
| rs76909887 | 12:56,626,573 | C/T | — | benign |
| rs150922607 | 12:56,626,574 | G/A | — | likely benign |
| rs144977611 | 12:56,626,576 | G/A | — | uncertain significance |
| rs199925906 | 12:56,626,589 | C/T | — | uncertain significance |
| rs747295252 | 12:56,626,603 | C/T | — | likely benign |
| rs753258798 | 12:56,626,657 | G/A | — | uncertain significance |
| rs756401833 | 12:56,628,643 | C/G | — | likely benign |
| rs201722260 | 12:56,628,653 | G/A | — | conflicting classifications of pathogenicity |
| rs199802051 | 12:56,628,660 | C/T | — | uncertain significance |
| rs141402989 | 12:56,628,681 | C/T | — | likely benign |
| rs190059993 | 12:56,628,694 | A/C | — | benign |
| rs772012053 | 12:56,628,720 | G/A | — | uncertain significance |
| rs770598737 | 12:56,628,722 | G/A | — | uncertain significance |
| rs759059162 | 12:56,628,733 | C/T | — | likely benign |
| rs371921611 | 12:56,628,738 | C/T | — | uncertain significance |
| rs758434362 | 12:56,629,009 | C/T | — | uncertain significance |
| rs1408535479 | 12:56,629,019 | G/A | — | likely benign |
| rs147133811 | 12:56,629,033 | C/T | — | uncertain significance |
| rs114552970 | 12:56,629,034 | G/A | — | benign |
| rs144269176 | 12:56,629,058 | C/G | — | uncertain significance |
| rs764301534 | 12:56,629,082 | G/C | — | uncertain significance |
| rs1408425630 | 12:56,629,345 | C/A | — | uncertain significance |
| rs115483407 | 12:56,629,346 | A/C | — | benign |
| rs200985814 | 12:56,629,362 | G/A | — | likely benign |
| rs766208817 | 12:56,629,399 | C/G | — | uncertain significance |
| rs201655097 | 12:56,629,402 | G/A | — | uncertain significance |
| rs144913593 | 12:56,629,417 | G/C | — | uncertain significance |
| rs2547137716 | 12:56,629,441 | T/C | — | uncertain significance |
| rs587777625 | 12:56,629,450 | T/C | missense variant | pathogenic |
| rs763604286 | 12:56,629,470 | C/T | — | pathogenic |
| rs148112570 | 12:56,630,198 | C/T | — | uncertain significance |
| rs534514470 | 12:56,630,199 | G/A | — | uncertain significance |
| rs150662274 | 12:56,630,216 | C/T | — | uncertain significance |
| rs149897918 | 12:56,630,217 | G/A | — | uncertain significance |
| rs143285853 | 12:56,630,271 | C/T | — | uncertain significance |
| rs1870793955 | 12:56,630,387 | G/C | — | uncertain significance |
| rs756110752 | 12:56,630,428 | G/A | — | uncertain significance |
| rs74812296 | 12:56,630,444 | G/C | — | likely benign |
| rs144206133 | 12:56,630,447 | A/T | — | uncertain significance |
| rs1445635555 | 12:56,630,497 | G/A | — | uncertain significance |
| rs150978302 | 12:56,630,505 | C/A | — | uncertain significance |
| rs751548975 | 12:56,630,768 | T/C | — | uncertain significance |
| rs1450917662 | 12:56,630,777 | G/A | — | uncertain significance |
| rs143449387 | 12:56,630,788 | C/T | — | likely benign |
| rs750169649 | 12:56,630,789 | G/C | — | uncertain significance |
| rs768850888 | 12:56,630,975 | C/T | — | uncertain significance |
| rs145213363 | 12:56,630,979 | T/G | — | uncertain significance |
| rs76216511 | 12:56,630,985 | T/C | — | uncertain significance |
| rs766313655 | 12:56,630,996 | G/A | — | uncertain significance |
| rs139208152 | 12:56,631,012 | G/C | — | likely benign |
| rs1592381561 | 12:56,631,036 | T/G | — | uncertain significance |
| rs751714685 | 12:56,631,387 | C/T | — | uncertain significance |
| rs371179560 | 12:56,631,388 | G/A | — | uncertain significance |
| rs774004961 | 12:56,631,429 | G/A | — | uncertain significance |
| rs150715610 | 12:56,631,497 | C/T | — | likely benign |
| rs754850184 | 12:56,631,498 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.