SLC18A1
solute carrier family 18 member A1
Summary
The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747543977 | 8:20,003,293 | T/C | — | uncertain significance |
| rs116409427 | 8:20,003,356 | G/T | — | uncertain significance |
| rs374331698 | 8:20,003,381 | G/A | — | likely benign |
| rs776125879 | 8:20,004,788 | G/A | — | uncertain significance |
| rs2071424570 | 8:20,004,794 | C/T | — | uncertain significance |
| rs575633804 | 8:20,004,821 | T/C | — | uncertain significance |
| rs773261479 | 8:20,004,828 | T/A | — | uncertain significance |
| rs780887018 | 8:20,004,866 | C/A | — | uncertain significance |
| rs770923383 | 8:20,004,878 | A/C | — | uncertain significance |
| rs759645070 | 8:20,004,888 | C/A | — | uncertain significance |
| rs148870551 | 8:20,005,147 | C/T | — | uncertain significance |
| rs1179010993 | 8:20,005,150 | T/C | — | uncertain significance |
| rs141967734 | 8:20,005,183 | G/A | — | uncertain significance |
| rs779846411 | 8:20,005,210 | G/T | — | uncertain significance |
| rs2486279794 | 8:20,005,533 | G/C | — | uncertain significance |
| rs774188222 | 8:20,005,560 | A/G | — | uncertain significance |
| rs17489891 | 8:20,007,573 | G/C | intron variant | — |
| rs138845247 | 8:20,008,178 | G/A | — | uncertain significance |
| rs373676006 | 8:20,008,192 | G/C | — | uncertain significance |
| rs769109299 | 8:20,022,383 | G/C | — | uncertain significance |
| rs202033958 | 8:20,022,395 | G/T | — | uncertain significance |
| rs781589769 | 8:20,022,472 | G/A | — | uncertain significance |
| rs1489469454 | 8:20,022,609 | C/T | — | uncertain significance |
| rs147972269 | 8:20,026,384 | T/C | intron variant | — |
| rs147588762 | 8:20,028,631 | A/T | — | uncertain significance |
| rs2486368016 | 8:20,028,633 | G/T | — | uncertain significance |
| rs768711278 | 8:20,028,640 | G/C | — | uncertain significance |
| rs199840153 | 8:20,028,988 | T/C | — | uncertain significance |
| rs931654124 | 8:20,030,586 | T/C | — | uncertain significance |
| rs780219972 | 8:20,030,607 | C/T | — | uncertain significance |
| rs17222120 | 8:20,031,898 | A/G | — | uncertain significance |
| rs762947238 | 8:20,031,950 | C/G | — | uncertain significance |
| rs3779672 | 8:20,032,103 | T/G | — | — |
| rs952859 | 8:20,032,587 | G/C | — | — |
| rs138962478 | 8:20,035,955 | A/T | — | uncertain significance |
| rs2072307387 | 8:20,035,967 | T/A | — | uncertain significance |
| rs1340574270 | 8:20,035,988 | G/A | — | uncertain significance |
| rs2279709 | 8:20,036,233 | T/C | — | — |
| rs1418201194 | 8:20,036,634 | G/T | — | uncertain significance |
| rs375952046 | 8:20,036,651 | C/T | — | uncertain significance |
| rs750050550 | 8:20,036,658 | G/T | — | uncertain significance |
| rs754963065 | 8:20,036,669 | G/A | — | uncertain significance |
| rs781481086 | 8:20,036,674 | A/G | — | uncertain significance |
| rs1390938 | 8:20,036,713 | A/G | missense variant | — |
| rs756173855 | 8:20,036,724 | C/G | — | uncertain significance |
| rs1182314873 | 8:20,036,735 | T/G | — | uncertain significance |
| rs2270637 | 8:20,036,827 | C/G | missense variant | — |
| rs373770885 | 8:20,036,852 | C/T | — | likely benign |
| rs17215822 | 8:20,036,875 | A/C | — | uncertain significance |
| rs773937408 | 8:20,036,900 | C/T | — | likely benign |
| rs750496793 | 8:20,036,930 | C/T | — | uncertain significance |
| rs772241617 | 8:20,038,388 | C/T | — | uncertain significance |
| rs2486414883 | 8:20,038,421 | A/G | — | uncertain significance |
| rs2486414919 | 8:20,038,424 | C/T | — | uncertain significance |
| rs778751156 | 8:20,038,429 | C/G | — | uncertain significance |
| rs2270641 | 8:20,038,466 | T/G | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.