SLC6A7
solute carrier family 6 member 7
Summary
This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3776083 | 5:149,567,970 | G/C | — | — |
| rs187423639 | 5:149,569,898 | A/G | — | uncertain significance |
| rs199699903 | 5:149,574,339 | G/C | — | uncertain significance |
| rs1045549434 | 5:149,574,409 | T/C | — | uncertain significance |
| rs374291484 | 5:149,574,457 | C/T | — | uncertain significance |
| rs200058333 | 5:149,576,685 | C/T | — | uncertain significance |
| rs748569211 | 5:149,576,724 | T/G | — | uncertain significance |
| rs764953105 | 5:149,576,793 | C/G | — | uncertain significance |
| rs772867215 | 5:149,578,793 | G/A | — | uncertain significance |
| rs770458246 | 5:149,578,798 | G/A | — | uncertain significance |
| rs143063045 | 5:149,578,820 | A/C | — | uncertain significance |
| rs138255265 | 5:149,578,846 | C/T | — | uncertain significance |
| rs371268394 | 5:149,578,847 | G/A | — | uncertain significance |
| rs769594267 | 5:149,578,855 | C/T | — | uncertain significance |
| rs1322025405 | 5:149,578,877 | C/T | — | uncertain significance |
| rs75182555 | 5:149,578,896 | C/T | — | benign |
| rs762034555 | 5:149,578,909 | G/A | — | uncertain significance |
| rs2286639 | 5:149,579,857 | G/C | — | — |
| rs2481410873 | 5:149,580,747 | C/A | — | uncertain significance |
| rs13153971 | 5:149,581,321 | T/C | intron variant | — |
| rs368619756 | 5:149,581,956 | G/A | — | uncertain significance |
| rs1188910200 | 5:149,582,159 | C/T | — | uncertain significance |
| rs202106417 | 5:149,582,209 | G/A | — | uncertain significance |
| rs542698484 | 5:149,582,239 | G/A | — | uncertain significance |
| rs775597845 | 5:149,582,243 | C/T | — | uncertain significance |
| rs2481420128 | 5:149,583,313 | A/G | — | uncertain significance |
| rs745332293 | 5:149,583,491 | G/T | — | uncertain significance |
| rs761241039 | 5:149,583,527 | C/T | — | uncertain significance |
| rs142204623 | 5:149,583,586 | G/A | — | benign |
| rs145944402 | 5:149,584,168 | C/T | — | uncertain significance |
| rs139797858 | 5:149,584,185 | C/T | — | uncertain significance |
| rs6878880 | 5:149,584,341 | T/C | intron variant | — |
| rs775491350 | 5:149,584,417 | A/C | — | uncertain significance |
| rs753256147 | 5:149,584,421 | G/A | — | uncertain significance |
| rs576710922 | 5:149,584,465 | T/C | — | uncertain significance |
| rs142615684 | 5:149,585,058 | G/A | — | uncertain significance |
| rs757435115 | 5:149,585,073 | C/T | — | uncertain significance |
| rs777422106 | 5:149,585,112 | G/A | — | uncertain significance |
| rs551124589 | 5:149,585,140 | C/T | — | uncertain significance |
| rs138692441 | 5:149,585,145 | A/T | — | uncertain significance |
| rs147622012 | 5:149,587,355 | T/A | intron variant | — |
| rs778460865 | 5:149,588,969 | C/T | — | uncertain significance |
| rs2481439179 | 5:149,588,972 | C/T | — | uncertain significance |
| rs769346961 | 5:149,588,984 | A/G | — | uncertain significance |
| rs144483863 | 5:149,588,987 | C/T | — | uncertain significance |
| rs141526464 | 5:149,589,026 | C/T | — | uncertain significance |
| rs759641980 | 5:149,589,081 | T/C | — | uncertain significance |
| rs2481439962 | 5:149,589,087 | A/C | — | uncertain significance |
| rs762494163 | 5:149,589,101 | G/A | — | uncertain significance |
| rs766178501 | 5:149,589,119 | G/A | — | uncertain significance |
| rs184040183 | 5:149,589,134 | G/A | — | uncertain significance |
| rs1189115024 | 5:149,589,143 | C/A | — | uncertain significance |
| rs777975931 | 5:149,589,144 | G/A | — | uncertain significance |
| rs990486379 | 5:149,589,147 | A/G | — | uncertain significance |
| rs867544698 | 5:149,589,158 | G/C | — | uncertain significance |
| rs561904674 | 5:149,589,168 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.