SLC5A7
solute carrier family 5 member 7
Summary
This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Known Variants424 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2433718 | 2:108,603,431 | A/G | regulatory region variant | — |
| rs17036563 | 2:108,604,267 | A/G | — | benign |
| rs13398078 | 2:108,604,411 | C/T | — | benign |
| rs13384641 | 2:108,604,418 | C/T | — | benign |
| rs945140285 | 2:108,604,619 | T/C | — | uncertain significance |
| rs1206415590 | 2:108,604,621 | C/G | — | uncertain significance |
| rs1677318394 | 2:108,604,623 | T/G | — | uncertain significance |
| rs759997671 | 2:108,604,624 | G/A | — | uncertain significance |
| rs753442687 | 2:108,604,630 | G/C | — | uncertain significance |
| rs903367698 | 2:108,604,632 | A/G | — | likely benign |
| rs986550712 | 2:108,604,636 | A/G | — | uncertain significance |
| rs543338077 | 2:108,604,637 | T/C | — | uncertain significance |
| rs911790588 | 2:108,604,642 | A/G | — | uncertain significance |
| rs764663527 | 2:108,604,645 | A/G | — | uncertain significance |
| rs1057353436 | 2:108,604,646 | T/C | — | uncertain significance |
| rs181681884 | 2:108,604,647 | C/T | — | likely benign |
| rs1677319788 | 2:108,604,648 | G/A | — | uncertain significance |
| rs769388027 | 2:108,604,650 | G/A | — | likely benign |
| rs1558857378 | 2:108,604,653 | C/A | — | uncertain significance |
| rs143876748 | 2:108,604,657 | C/T | — | conflicting classifications of pathogenicity |
| rs370177227 | 2:108,604,665 | T/C | — | likely benign |
| rs2104332660 | 2:108,604,685 | C/T | — | uncertain significance |
| rs1677321281 | 2:108,604,692 | G/A | — | conflicting classifications of pathogenicity |
| rs202046349 | 2:108,604,695 | A/G | — | likely benign |
| rs1324491054 | 2:108,604,706 | G/A | — | uncertain significance |
| rs778941657 | 2:108,604,713 | C/T | — | likely benign |
| rs1225811300 | 2:108,604,714 | G/A | — | uncertain significance |
| rs771965968 | 2:108,604,721 | A/G | — | uncertain significance |
| rs935822553 | 2:108,604,723 | C/T | — | uncertain significance |
| rs1054170676 | 2:108,604,724 | G/A | — | uncertain significance |
| rs773055887 | 2:108,604,728 | C/A | — | uncertain significance |
| rs760447400 | 2:108,604,729 | G/A | — | uncertain significance |
| rs770628227 | 2:108,604,730 | A/C | — | uncertain significance |
| rs1677323077 | 2:108,604,732 | G/A | — | uncertain significance |
| rs2467051387 | 2:108,604,738 | A/G | — | uncertain significance |
| rs1375363831 | 2:108,604,748 | G/T | — | uncertain significance |
| rs776077643 | 2:108,604,749 | C/T | — | likely benign |
| rs759113125 | 2:108,604,753 | G/A | — | uncertain significance |
| rs886039768 | 2:108,604,754 | A/G | missense variant | pathogenic |
| rs2467051480 | 2:108,604,756 | A/T | — | uncertain significance |
| rs764607015 | 2:108,604,757 | T/C | — | uncertain significance |
| rs899126759 | 2:108,604,759 | G/T | — | uncertain significance |
| rs894241313 | 2:108,604,765 | T/C | — | likely benign |
| rs2467051578 | 2:108,604,786 | A/T | — | uncertain significance |
| rs1553457528 | 2:108,604,788 | A/G | — | uncertain significance |
| rs1677325509 | 2:108,604,790 | G/C | — | uncertain significance |
| rs2467051596 | 2:108,604,791 | T/C | — | likely pathogenic |
| rs202139534 | 2:108,604,793 | C/G | — | uncertain significance |
| rs1553457530 | 2:108,604,795 | T/C | — | uncertain significance |
| rs768137149 | 2:108,604,802 | G/A | — | likely benign |
| rs756377938 | 2:108,604,805 | G/C | — | likely benign |
| rs555753695 | 2:108,604,806 | C/A | — | likely benign |
| rs372695865 | 2:108,604,807 | C/T | — | likely benign |
| rs72933292 | 2:108,604,840 | G/A | — | likely benign |
| rs72933295 | 2:108,605,062 | T/C | — | likely benign |
| rs145555169 | 2:108,608,398 | A/G | — | likely benign |
| rs57150197 | 2:108,608,455 | G/A | — | likely benign |
| rs375281148 | 2:108,608,542 | C/T | — | likely benign |
| rs775209241 | 2:108,608,543 | A/C | — | likely benign |
| rs2104340311 | 2:108,608,560 | A/G | — | likely pathogenic |
| rs146871193 | 2:108,608,563 | T/C | — | likely benign |
| rs1573591981 | 2:108,608,572 | C/T | — | likely benign |
| rs998009546 | 2:108,608,573 | G/A | — | uncertain significance |
| rs773790295 | 2:108,608,575 | A/T | — | likely benign |
| rs886039765 | 2:108,608,577 | G/A | missense variant | pathogenic |
| rs1677475501 | 2:108,608,590 | T/C | — | likely benign |
| rs766603898 | 2:108,608,612 | G/A | — | uncertain significance |
| rs1573592052 | 2:108,608,613 | T/A | — | uncertain significance |
| rs1177599655 | 2:108,608,619 | G/T | — | uncertain significance |
| rs748862220 | 2:108,608,621 | T/C | — | uncertain significance |
| rs1558859918 | 2:108,608,643 | C/T | — | uncertain significance |
| rs1013940 | 2:108,608,648 | A/G | missense variant | benign |
| rs754914654 | 2:108,608,649 | T/C | — | uncertain significance |
| rs60964124 | 2:108,608,658 | C/T | — | uncertain significance |
| rs1172822464 | 2:108,608,660 | C/A | — | uncertain significance |
| rs2467062356 | 2:108,608,661 | T/G | — | uncertain significance |
| rs1446568843 | 2:108,608,668 | G/C | — | likely benign |
| rs1677478082 | 2:108,608,675 | G/A | — | uncertain significance |
| rs1677478183 | 2:108,608,676 | G/A | — | likely pathogenic |
| rs1237273139 | 2:108,608,680 | G/C | — | uncertain significance |
| rs777715689 | 2:108,608,686 | G/C | — | likely benign |
| rs333219 | 2:108,608,812 | A/G | — | likely benign |
| rs13020429 | 2:108,608,933 | C/G | — | benign |
| rs77020121 | 2:108,609,307 | T/A | — | likely benign |
| rs200631097 | 2:108,609,410 | C/G | — | likely benign |
| rs1573593291 | 2:108,609,411 | A/T | — | likely benign |
| rs2104342304 | 2:108,609,429 | T/C | — | likely benign |
| rs1157953204 | 2:108,609,432 | C/T | — | likely benign |
| rs886039766 | 2:108,609,448 | C/T | missense variant | pathogenic |
| rs1265189648 | 2:108,609,454 | C/T | — | uncertain significance |
| rs961639912 | 2:108,609,455 | G/A | — | conflicting classifications of pathogenicity |
| rs759885480 | 2:108,609,456 | T/C | — | likely benign |
| rs2467064935 | 2:108,609,459 | A/C | — | likely benign |
| rs1573593406 | 2:108,609,468 | T/C | — | likely benign |
| rs368109143 | 2:108,609,486 | G/C | — | likely benign |
| rs1216195616 | 2:108,609,489 | T/C | — | likely benign |
| rs757211775 | 2:108,609,508 | C/T | — | uncertain significance |
| rs371931981 | 2:108,609,511 | A/G | — | uncertain significance |
| rs2467065259 | 2:108,609,512 | T/C | — | uncertain significance |
| rs1336840043 | 2:108,609,513 | G/A | — | uncertain significance |
Showing 100 of 424 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.