SLC5A6
solute carrier family 5 member 6
Summary
Enables biotin transmembrane transporter activity; iodide transmembrane transporter activity; and pantothenate transmembrane transporter activity. Involved in iodide transmembrane transport; transport across blood-brain barrier; and vitamin transmembrane transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs41288805 | 2:27,423,325 | G/C | — | uncertain significance |
| rs752943041 | 2:27,423,332 | G/T | — | uncertain significance |
| rs1275519 | 2:27,423,646 | T/G | — | — |
| rs573985573 | 2:27,423,892 | G/A | — | uncertain significance |
| rs61737378 | 2:27,423,908 | C/T | — | benign |
| rs562530417 | 2:27,423,910 | G/A | — | uncertain significance |
| rs762605889 | 2:27,423,956 | G/T | — | uncertain significance |
| rs141244089 | 2:27,423,972 | C/T | — | likely benign |
| rs2466014188 | 2:27,424,223 | A/G | — | uncertain significance |
| rs138079521 | 2:27,424,227 | G/C | — | likely benign |
| rs1023765546 | 2:27,424,248 | C/A | — | uncertain significance |
| rs1374291755 | 2:27,424,537 | G/A | — | uncertain significance |
| rs142905141 | 2:27,424,577 | C/T | — | uncertain significance |
| rs1064845 | 2:27,424,603 | C/T | — | benign |
| rs769602340 | 2:27,424,618 | G/A | — | likely benign |
| rs202069093 | 2:27,424,623 | G/C | — | likely benign |
| rs1395 | 2:27,424,636 | G/A | missense variant | benign |
| rs764303820 | 2:27,424,639 | C/T | — | uncertain significance |
| rs374714927 | 2:27,424,646 | T/G | — | uncertain significance |
| rs765809420 | 2:27,424,652 | C/T | — | uncertain significance |
| rs61360024 | 2:27,424,653 | G/A | — | benign |
| rs553930469 | 2:27,424,664 | T/G | — | uncertain significance |
| rs202033325 | 2:27,424,685 | C/A | — | likely benign |
| rs371787240 | 2:27,424,686 | G/A | — | likely benign |
| rs768739418 | 2:27,424,706 | C/T | — | likely benign |
| rs763611646 | 2:27,424,908 | G/A | — | uncertain significance |
| rs1673682576 | 2:27,424,911 | C/T | — | uncertain significance |
| rs2147992303 | 2:27,424,933 | T/C | — | pathogenic |
| rs143540129 | 2:27,424,936 | T/C | — | conflicting classifications of pathogenicity |
| rs753449800 | 2:27,425,712 | T/C | — | uncertain significance |
| rs2466039013 | 2:27,425,730 | A/G | — | uncertain significance |
| rs370950187 | 2:27,426,109 | C/G | — | pathogenic |
| rs146071245 | 2:27,426,126 | C/A | — | likely benign |
| rs1673834327 | 2:27,426,668 | C/T | — | uncertain significance |
| rs748830993 | 2:27,426,671 | G/A | — | uncertain significance |
| rs565711489 | 2:27,427,328 | C/T | — | pathogenic |
| rs778734078 | 2:27,427,375 | T/C | — | likely benign |
| rs199587675 | 2:27,427,384 | G/A | — | uncertain significance |
| rs747027838 | 2:27,427,385 | C/T | — | likely benign |
| rs1310662577 | 2:27,427,409 | A/G | — | uncertain significance |
| rs1673905921 | 2:27,427,420 | A/T | — | uncertain significance |
| rs2466065794 | 2:27,427,451 | A/G | — | uncertain significance |
| rs151071040 | 2:27,427,681 | G/A | — | uncertain significance |
| rs2466069640 | 2:27,427,705 | G/A | — | pathogenic |
| rs763248415 | 2:27,427,751 | G/A | — | likely benign |
| rs1572390694 | 2:27,427,794 | T/C | — | uncertain significance |
| rs894072627 | 2:27,428,234 | G/A | — | uncertain significance |
| rs116531030 | 2:27,428,238 | G/A | — | benign |
| rs373951293 | 2:27,428,252 | C/T | — | uncertain significance |
| rs949806130 | 2:27,428,299 | A/G | — | uncertain significance |
| rs41288809 | 2:27,428,426 | C/T | intron variant | — |
| rs1305592364 | 2:27,428,898 | G/A | — | uncertain significance |
| rs199685602 | 2:27,428,908 | C/T | — | likely benign |
| rs572909622 | 2:27,429,356 | T/C | — | likely benign |
| rs748890911 | 2:27,429,377 | T/C | — | uncertain significance |
| rs2466102230 | 2:27,429,421 | A/C | — | likely pathogenic |
| rs1674112078 | 2:27,429,776 | A/G | — | uncertain significance |
| rs1558510783 | 2:27,429,780 | G/A | — | pathogenic |
| rs1274201044 | 2:27,430,124 | A/G | — | pathogenic |
| rs1419712776 | 2:27,430,146 | G/C | — | uncertain significance |
| rs188933728 | 2:27,430,151 | C/A | — | pathogenic |
| rs750112378 | 2:27,430,152 | G/A | — | uncertain significance |
| rs150524685 | 2:27,430,161 | C/T | — | likely benign |
| rs994218778 | 2:27,430,239 | G/A | — | pathogenic |
| rs139747998 | 2:27,430,309 | C/T | — | benign |
| rs753474534 | 2:27,430,328 | C/T | — | likely benign |
| rs747165711 | 2:27,430,337 | A/T | — | conflicting classifications of pathogenicity |
| rs376846645 | 2:27,430,361 | C/T | — | uncertain significance |
| rs774958059 | 2:27,430,397 | G/C | — | uncertain significance |
| rs201078481 | 2:27,430,464 | C/T | — | likely benign |
| rs1275529 | 2:27,431,413 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.