SLC39A4
solute carrier family 39 member 4
Summary
This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Known Variants710 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs934570845 | 8:145,637,861 | T/C | — | uncertain significance |
| rs200717604 | 8:145,637,894 | G/A | — | uncertain significance |
| rs1038762995 | 8:145,637,929 | G/A | — | uncertain significance |
| rs2537424576 | 8:145,637,931 | G/A | — | likely benign |
| rs1821920266 | 8:145,637,934 | G/A | — | likely benign |
| rs782620896 | 8:145,637,942 | C/T | — | uncertain significance |
| rs1554871784 | 8:145,637,943 | G/A | — | likely benign |
| rs1554871788 | 8:145,637,948 | G/A | — | likely benign |
| rs1821921647 | 8:145,637,955 | C/A | — | likely benign |
| rs2130791443 | 8:145,637,957 | G/A | — | likely benign |
| rs1821921884 | 8:145,637,960 | G/A | — | likely benign |
| rs1821921974 | 8:145,637,961 | C/A | — | likely benign |
| rs199706667 | 8:145,637,963 | G/A | — | likely benign |
| rs782025085 | 8:145,637,967 | G/A | — | likely benign |
| rs782382661 | 8:145,637,968 | G/A | — | uncertain significance |
| rs1131691340 | 8:145,637,970 | C/T | — | uncertain significance |
| rs369599260 | 8:145,637,973 | G/C | — | likely benign |
| rs1048588193 | 8:145,637,976 | G/A | — | likely benign |
| rs1554871810 | 8:145,637,978 | C/G | — | likely pathogenic |
| rs2130791552 | 8:145,637,982 | C/G | — | likely benign |
| rs2537424831 | 8:145,637,984 | G/A | — | likely benign |
| rs201646926 | 8:145,637,991 | G/A | — | likely benign |
| rs2537424868 | 8:145,637,994 | G/A | — | likely benign |
| rs1283834348 | 8:145,637,997 | C/A | — | likely benign |
| rs2537424876 | 8:145,637,998 | A/G | — | uncertain significance |
| rs141794438 | 8:145,638,000 | C/G | — | likely benign |
| rs267601825 | 8:145,638,002 | G/A | — | likely benign |
| rs2130791631 | 8:145,638,006 | G/A | — | likely benign |
| rs1554871829 | 8:145,638,009 | G/T | — | likely benign |
| rs61729885 | 8:145,638,015 | G/A | — | benign |
| rs2130791682 | 8:145,638,021 | C/T | — | likely benign |
| rs1356475652 | 8:145,638,022 | G/A | — | uncertain significance |
| rs1469353733 | 8:145,638,028 | C/T | — | uncertain significance |
| rs781843190 | 8:145,638,029 | G/A | — | uncertain significance |
| rs1417807584 | 8:145,638,030 | T/G | — | likely benign |
| rs782287579 | 8:145,638,042 | C/T | — | likely benign |
| rs1554871852 | 8:145,638,045 | C/G | — | likely benign |
| rs1821927782 | 8:145,638,048 | G/T | — | likely benign |
| rs377259479 | 8:145,638,054 | A/T | — | likely benign |
| rs1821928201 | 8:145,638,055 | G/A | — | likely benign |
| rs2537425134 | 8:145,638,058 | G/A | — | likely benign |
| rs1564705934 | 8:145,638,059 | C/T | — | likely benign |
| rs1014213817 | 8:145,638,063 | T/C | — | likely benign |
| rs781917969 | 8:145,638,064 | G/T | — | likely benign |
| rs2537425149 | 8:145,638,065 | G/T | — | likely benign |
| rs377089190 | 8:145,638,126 | C/T | — | likely benign |
| rs782170860 | 8:145,638,129 | C/T | — | likely benign |
| rs782660340 | 8:145,638,134 | C/A | — | likely benign |
| rs1554871900 | 8:145,638,149 | G/A | — | likely benign |
| rs4326417 | 8:145,638,152 | G/C | — | likely benign |
| rs1821934772 | 8:145,638,155 | T/C | — | likely benign |
| rs782062734 | 8:145,638,167 | G/A | — | likely benign |
| rs2130792180 | 8:145,638,170 | C/T | — | likely benign |
| rs2537425518 | 8:145,638,173 | G/T | — | likely benign |
| rs1821936507 | 8:145,638,176 | G/C | — | likely benign |
| rs372871688 | 8:145,638,179 | G/A | — | likely benign |
| rs532302355 | 8:145,638,181 | C/T | — | uncertain significance |
| rs2130792232 | 8:145,638,182 | C/T | — | likely benign |
| rs1216486653 | 8:145,638,185 | T/G | — | likely benign |
| rs782783048 | 8:145,638,190 | G/A | — | likely benign |
| rs1312566759 | 8:145,638,191 | G/A | — | likely benign |
| rs782044928 | 8:145,638,195 | C/T | — | pathogenic |
| rs782701830 | 8:145,638,197 | G/A | — | likely benign |
| rs2537425653 | 8:145,638,200 | C/T | — | likely benign |
| rs1289535659 | 8:145,638,209 | C/T | — | likely benign |
| rs1554871935 | 8:145,638,211 | C/T | — | uncertain significance |
| rs144252108 | 8:145,638,215 | G/A | — | conflicting classifications of pathogenicity |
| rs782658832 | 8:145,638,223 | C/G | — | uncertain significance |
| rs782291826 | 8:145,638,224 | C/A | — | likely benign |
| rs370795784 | 8:145,638,226 | C/A | — | uncertain significance |
| rs547904125 | 8:145,638,227 | G/A | — | likely benign |
| rs782140094 | 8:145,638,239 | G/C | — | likely benign |
| rs1554871973 | 8:145,638,251 | G/A | — | likely benign |
| rs115808560 | 8:145,638,254 | C/T | — | benign |
| rs1821945028 | 8:145,638,260 | C/T | — | likely benign |
| rs2130792612 | 8:145,638,272 | G/A | — | likely benign |
| rs888582744 | 8:145,638,275 | C/A | — | likely benign |
| rs201382037 | 8:145,638,277 | G/A | — | likely benign |
| rs2537425941 | 8:145,638,284 | T/C | — | likely benign |
| rs140102386 | 8:145,638,286 | C/T | — | uncertain significance |
| rs1564706353 | 8:145,638,290 | G/A | — | likely benign |
| rs2537425975 | 8:145,638,293 | C/T | — | likely benign |
| rs896079086 | 8:145,638,296 | G/T | — | likely benign |
| rs143778004 | 8:145,638,299 | C/G | — | likely benign |
| rs782353576 | 8:145,638,301 | G/A | — | likely benign |
| rs1478537310 | 8:145,638,302 | C/A | — | likely benign |
| rs1554872056 | 8:145,638,305 | C/A | — | likely benign |
| rs1554872071 | 8:145,638,311 | C/G | — | likely benign |
| rs1269116944 | 8:145,638,315 | A/T | — | pathogenic |
| rs781951244 | 8:145,638,320 | G/C | — | likely benign |
| rs782100546 | 8:145,638,323 | G/A | — | likely benign |
| rs548092140 | 8:145,638,329 | C/T | — | benign |
| rs1033112015 | 8:145,638,332 | T/G | — | likely pathogenic |
| rs1554872101 | 8:145,638,334 | C/T | — | likely benign |
| rs1821953319 | 8:145,638,336 | G/T | — | likely benign |
| rs781855258 | 8:145,638,338 | C/A | — | likely benign |
| rs782534434 | 8:145,638,339 | G/A | — | likely benign |
| rs782727114 | 8:145,638,340 | A/G | — | likely benign |
| rs1554872107 | 8:145,638,341 | G/T | — | likely benign |
| rs1821953946 | 8:145,638,342 | T/A | — | likely benign |
Showing 100 of 710 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.