SLC46A1
solute carrier family 46 member 1
Summary
This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
Known Variants307 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1128162 | 17:26,721,791 | C/A | — | benign |
| rs781937251 | 17:26,721,871 | A/T | — | uncertain significance |
| rs1128161 | 17:26,721,895 | G/A | — | benign |
| rs886052736 | 17:26,721,933 | T/C | — | uncertain significance |
| rs575926704 | 17:26,722,014 | C/T | — | uncertain significance |
| rs886052737 | 17:26,722,039 | G/A | — | uncertain significance |
| rs116278566 | 17:26,722,091 | G/A | — | benign |
| rs184621509 | 17:26,722,257 | G/A | — | uncertain significance |
| rs561043242 | 17:26,722,352 | G/C | — | uncertain significance |
| rs528235797 | 17:26,722,355 | T/C | — | uncertain significance |
| rs117397871 | 17:26,722,359 | G/C | — | likely benign |
| rs2068108606 | 17:26,722,491 | A/C | — | uncertain significance |
| rs1216449496 | 17:26,722,517 | C/T | — | uncertain significance |
| rs1046966571 | 17:26,722,584 | G/T | — | uncertain significance |
| rs908290461 | 17:26,722,604 | C/T | — | uncertain significance |
| rs569679076 | 17:26,722,640 | C/T | — | likely benign |
| rs8079943 | 17:26,722,645 | G/A | — | benign |
| rs1031838882 | 17:26,722,690 | T/A | — | uncertain significance |
| rs886052738 | 17:26,722,716 | G/C | — | uncertain significance |
| rs8081240 | 17:26,722,728 | C/T | — | benign |
| rs886052739 | 17:26,722,762 | T/A | — | uncertain significance |
| rs886052740 | 17:26,722,886 | G/T | — | uncertain significance |
| rs117451747 | 17:26,722,890 | A/G | — | benign |
| rs886052741 | 17:26,722,998 | G/C | — | uncertain significance |
| rs782774927 | 17:26,723,014 | A/G | — | uncertain significance |
| rs782370729 | 17:26,723,072 | G/A | — | uncertain significance |
| rs372946020 | 17:26,723,219 | C/G | — | uncertain significance |
| rs781986662 | 17:26,723,273 | T/C | — | uncertain significance |
| rs146812537 | 17:26,723,286 | C/T | — | uncertain significance |
| rs886052742 | 17:26,723,373 | T/C | — | uncertain significance |
| rs539239937 | 17:26,723,396 | G/A | — | uncertain significance |
| rs73273104 | 17:26,723,409 | C/T | — | benign |
| rs886052743 | 17:26,723,472 | T/C | — | uncertain significance |
| rs762983414 | 17:26,723,540 | T/C | — | uncertain significance |
| rs147971222 | 17:26,723,555 | T/C | — | likely benign |
| rs2239911 | 17:26,723,613 | G/T | — | benign |
| rs2239910 | 17:26,723,666 | A/C | — | uncertain significance |
| rs12453383 | 17:26,723,707 | G/A | — | benign |
| rs1339848912 | 17:26,723,730 | C/T | — | uncertain significance |
| rs2068129559 | 17:26,723,774 | G/A | — | uncertain significance |
| rs1028128966 | 17:26,723,807 | C/T | — | uncertain significance |
| rs739439 | 17:26,723,822 | T/C | — | benign |
| rs569526091 | 17:26,723,823 | G/A | — | likely benign |
| rs118138669 | 17:26,723,832 | C/T | — | benign |
| rs886052744 | 17:26,723,867 | C/G | — | uncertain significance |
| rs11871687 | 17:26,723,929 | C/T | — | benign |
| rs139343092 | 17:26,723,951 | C/G | — | uncertain significance |
| rs886052745 | 17:26,724,014 | C/G | — | uncertain significance |
| rs782382359 | 17:26,724,039 | G/T | — | uncertain significance |
| rs750056802 | 17:26,724,117 | G/A | — | uncertain significance |
| rs576823032 | 17:26,724,162 | C/G | — | uncertain significance |
| rs886052746 | 17:26,724,182 | T/C | — | uncertain significance |
| rs537647948 | 17:26,724,189 | A/G | — | uncertain significance |
| rs555975005 | 17:26,724,274 | C/T | — | uncertain significance |
| rs542078425 | 17:26,724,402 | T/C | — | uncertain significance |
| rs782425144 | 17:26,724,413 | C/T | — | uncertain significance |
| rs8082600 | 17:26,724,427 | A/G | — | benign |
| rs41297923 | 17:26,724,458 | T/C | — | benign |
| rs7225850 | 17:26,724,552 | C/G | — | likely benign |
| rs149579635 | 17:26,724,648 | G/T | — | uncertain significance |
| rs41297919 | 17:26,724,694 | G/C | — | uncertain significance |
| rs41297917 | 17:26,724,836 | C/T | — | uncertain significance |
| rs41297915 | 17:26,724,844 | G/T | — | uncertain significance |
| rs200529579 | 17:26,724,877 | G/A | — | uncertain significance |
| rs2239909 | 17:26,724,898 | T/C | — | benign |
| rs779490495 | 17:26,725,023 | T/C | — | uncertain significance |
| rs114008979 | 17:26,725,024 | C/T | — | likely benign |
| rs886052747 | 17:26,725,045 | A/T | — | uncertain significance |
| rs988138947 | 17:26,725,151 | C/T | — | uncertain significance |
| rs2239908 | 17:26,725,265 | A/G | — | benign |
| rs141940033 | 17:26,725,280 | G/T | — | likely benign |
| rs560836860 | 17:26,725,289 | T/C | — | uncertain significance |
| rs1435694827 | 17:26,725,336 | C/T | — | uncertain significance |
| rs1390797851 | 17:26,725,337 | G/A | — | uncertain significance |
| rs146041886 | 17:26,725,340 | C/T | — | likely benign |
| rs139970165 | 17:26,725,374 | C/T | — | uncertain significance |
| rs781824816 | 17:26,725,423 | C/T | — | uncertain significance |
| rs41297909 | 17:26,725,429 | T/C | — | benign |
| rs886052748 | 17:26,725,452 | T/C | — | uncertain significance |
| rs782533706 | 17:26,725,578 | T/C | — | uncertain significance |
| rs151184490 | 17:26,725,596 | C/T | — | uncertain significance |
| rs535633260 | 17:26,725,610 | C/T | — | uncertain significance |
| rs886052749 | 17:26,725,666 | T/G | — | uncertain significance |
| rs181698246 | 17:26,725,837 | T/C | — | uncertain significance |
| rs886052750 | 17:26,725,887 | A/C | — | uncertain significance |
| rs41297903 | 17:26,725,943 | C/T | — | benign |
| rs112801276 | 17:26,725,980 | T/A | — | benign |
| rs41297123 | 17:26,726,001 | G/A | — | benign |
| rs893997849 | 17:26,726,196 | C/T | — | uncertain significance |
| rs1207587504 | 17:26,726,321 | G/A | — | uncertain significance |
| rs1386304942 | 17:26,726,375 | G/A | — | uncertain significance |
| rs886052751 | 17:26,726,395 | T/C | — | uncertain significance |
| rs886052752 | 17:26,726,543 | G/A | — | uncertain significance |
| rs782079474 | 17:26,726,582 | C/T | — | uncertain significance |
| rs41297121 | 17:26,726,612 | C/A | — | likely benign |
| rs782615925 | 17:26,726,661 | G/A | — | uncertain significance |
| rs886052753 | 17:26,726,668 | C/A | — | uncertain significance |
| rs1042990430 | 17:26,726,678 | G/T | — | uncertain significance |
| rs886052754 | 17:26,726,685 | G/A | — | uncertain significance |
| rs1555589089 | 17:26,726,692 | G/C | — | uncertain significance |
Showing 100 of 307 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.