SLC45A2
solute carrier family 45 member 2
Summary
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Known Variants454 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35404 | 5:33,944,512 | A/G | — | benign |
| rs886060518 | 5:33,944,724 | G/C | — | uncertain significance |
| rs45552240 | 5:33,944,729 | T/G | — | likely benign |
| rs3822467 | 5:33,944,752 | C/T | — | uncertain significance |
| rs2478761315 | 5:33,944,754 | T/C | — | uncertain significance |
| rs1751868442 | 5:33,944,762 | A/G | — | likely benign |
| rs2478761405 | 5:33,944,767 | T/C | — | uncertain significance |
| rs757597359 | 5:33,944,774 | G/C | — | likely benign |
| rs565278457 | 5:33,944,776 | G/A | — | uncertain significance |
| rs371334000 | 5:33,944,779 | C/T | — | uncertain significance |
| rs762123246 | 5:33,944,780 | G/A | — | likely benign |
| rs750510834 | 5:33,944,791 | A/G | — | likely pathogenic |
| rs867742805 | 5:33,944,796 | A/G | — | uncertain significance |
| rs191164795 | 5:33,944,798 | C/A | — | likely benign |
| rs1330713529 | 5:33,944,807 | C/T | — | likely benign |
| rs373846997 | 5:33,944,808 | G/T | — | pathogenic |
| rs373174326 | 5:33,944,813 | C/T | — | conflicting classifications of pathogenicity |
| rs748872789 | 5:33,944,814 | G/T | — | pathogenic |
| rs567138411 | 5:33,944,818 | T/C | — | uncertain significance |
| rs375214909 | 5:33,944,824 | C/A | — | uncertain significance |
| rs1325153463 | 5:33,944,825 | C/G | — | likely benign |
| rs3733808 | 5:33,944,827 | C/G | — | conflicting classifications of pathogenicity |
| rs150473213 | 5:33,944,828 | G/A | — | conflicting classifications of pathogenicity |
| rs138338197 | 5:33,944,830 | C/T | — | uncertain significance |
| rs184036018 | 5:33,944,831 | G/A | — | likely benign |
| rs149233226 | 5:33,944,836 | C/T | — | uncertain significance |
| rs766418641 | 5:33,944,837 | G/A | — | likely benign |
| rs147355272 | 5:33,944,842 | C/T | — | likely pathogenic |
| rs759542581 | 5:33,944,843 | G/A | — | likely benign |
| rs752541295 | 5:33,944,846 | T/C | — | likely benign |
| rs1369512167 | 5:33,944,870 | A/G | — | likely benign |
| rs779983065 | 5:33,944,875 | C/T | — | pathogenic |
| rs745313198 | 5:33,944,876 | G/A | — | likely benign |
| rs1400755888 | 5:33,944,881 | G/A | — | likely benign |
| rs748607627 | 5:33,944,882 | G/T | — | likely benign |
| rs770124563 | 5:33,944,883 | A/C | — | uncertain significance |
| rs2111893057 | 5:33,944,886 | T/A | — | uncertain significance |
| rs2478762368 | 5:33,944,888 | A/T | — | likely benign |
| rs121912620 | 5:33,944,889 | G/A | missense variant | pathogenic |
| rs749544685 | 5:33,944,892 | A/G | missense variant | pathogenic |
| rs1241722581 | 5:33,944,896 | G/A | — | pathogenic |
| rs928474154 | 5:33,944,899 | C/G | — | uncertain significance |
| rs2478762606 | 5:33,944,901 | A/C | — | uncertain significance |
| rs2111893177 | 5:33,944,907 | G/A | — | uncertain significance |
| rs774502932 | 5:33,944,911 | G/C | — | uncertain significance |
| rs1352999116 | 5:33,944,917 | C/T | — | conflicting classifications of pathogenicity |
| rs139551409 | 5:33,944,918 | G/T | — | pathogenic |
| rs2478762787 | 5:33,944,928 | C/T | — | uncertain significance |
| rs1265551870 | 5:33,944,929 | C/T | — | uncertain significance |
| rs1182548069 | 5:33,944,930 | C/T | — | likely benign |
| rs775276431 | 5:33,944,931 | T/C | — | uncertain significance |
| rs2478762883 | 5:33,944,939 | C/T | — | likely benign |
| rs369776002 | 5:33,944,941 | C/T | — | uncertain significance |
| rs143577894 | 5:33,944,942 | G/A | — | likely benign |
| rs1158895327 | 5:33,944,945 | G/A | — | likely benign |
| rs909760291 | 5:33,944,956 | C/A | — | uncertain significance |
| rs1302093545 | 5:33,944,957 | C/G | — | likely benign |
| rs757836680 | 5:33,944,963 | T/C | — | likely benign |
| rs2111893469 | 5:33,944,965 | G/A | — | uncertain significance |
| rs748573899 | 5:33,944,967 | G/A | — | uncertain significance |
| rs756576808 | 5:33,944,968 | C/T | — | uncertain significance |
| rs778133677 | 5:33,944,975 | C/T | — | likely benign |
| rs1751878619 | 5:33,944,989 | G/A | — | likely benign |
| rs374433573 | 5:33,944,990 | C/T | — | likely benign |
| rs778998817 | 5:33,944,995 | A/G | — | likely benign |
| rs35406 | 5:33,946,143 | A/G | intron variant | — |
| rs6894408 | 5:33,947,168 | C/G | — | benign |
| rs754269603 | 5:33,947,254 | C/G | — | likely benign |
| rs1294369944 | 5:33,947,267 | C/A | — | pathogenic |
| rs1751954595 | 5:33,947,268 | C/T | — | uncertain significance |
| rs746045166 | 5:33,947,282 | C/T | — | uncertain significance |
| rs750872312 | 5:33,947,283 | G/A | — | likely benign |
| rs142680641 | 5:33,947,284 | C/T | — | uncertain significance |
| rs142175557 | 5:33,947,285 | G/A | — | uncertain significance |
| rs2478774638 | 5:33,947,289 | G/C | — | pathogenic |
| rs1220241839 | 5:33,947,292 | C/G | — | uncertain significance |
| rs151214882 | 5:33,947,300 | T/C | — | uncertain significance |
| rs761752913 | 5:33,947,310 | G/A | — | likely benign |
| rs769448704 | 5:33,947,311 | G/A | — | conflicting classifications of pathogenicity |
| rs773022459 | 5:33,947,313 | C/T | — | likely benign |
| rs2111901209 | 5:33,947,316 | A/T | — | likely benign |
| rs2478774868 | 5:33,947,317 | G/A | — | uncertain significance |
| rs762539147 | 5:33,947,318 | T/G | — | uncertain significance |
| rs1289234311 | 5:33,947,322 | C/A | — | likely benign |
| rs1751958735 | 5:33,947,325 | G/A | — | likely benign |
| rs1003786407 | 5:33,947,331 | G/A | — | likely benign |
| rs1447268402 | 5:33,947,332 | G/T | — | uncertain significance |
| rs751075199 | 5:33,947,337 | T/C | — | likely benign |
| rs1211363704 | 5:33,947,341 | C/T | — | conflicting classifications of pathogenicity |
| rs2478775051 | 5:33,947,343 | A/G | — | likely benign |
| rs2478775066 | 5:33,947,347 | A/G | — | uncertain significance |
| rs759043037 | 5:33,947,356 | A/G | — | pathogenic |
| rs2478775180 | 5:33,947,361 | C/G | — | likely benign |
| rs374730575 | 5:33,947,364 | G/T | — | likely benign |
| rs201560110 | 5:33,947,368 | G/A | — | uncertain significance |
| rs750747932 | 5:33,947,370 | G/C | — | pathogenic |
| rs758560526 | 5:33,947,372 | A/G | — | uncertain significance |
| rs1488510709 | 5:33,947,373 | G/A | — | likely benign |
| rs747149385 | 5:33,947,377 | T/C | — | uncertain significance |
| rs989974325 | 5:33,947,379 | C/T | — | likely benign |
Showing 100 of 454 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.