TMEM50B
transmembrane protein 50B
Summary
Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17885472 | 21:34,807,116 | C/T | — | — |
| rs2409493 | 21:34,808,289 | A/C | — | — |
| rs1059293 | 21:34,809,693 | C/T | intron variant | — |
| rs2516983550 | 21:34,823,162 | A/G | — | uncertain significance |
| rs139284785 | 21:34,823,829 | G/A | intron variant | — |
| rs1245775070 | 21:34,828,091 | T/C | — | uncertain significance |
| rs147335363 | 21:34,837,699 | T/C | — | uncertain significance |
| rs764699169 | 21:34,839,335 | G/A | — | uncertain significance |
| rs762009276 | 21:34,839,352 | G/T | — | uncertain significance |
| rs376706461 | 21:34,839,384 | G/T | — | uncertain significance |
| rs371301100 | 21:34,839,393 | C/G | — | uncertain significance |
| rs771687407 | 21:34,841,105 | C/A | — | uncertain significance |
| rs367776586 | 21:34,841,167 | C/T | — | uncertain significance |
| rs187720322 | 21:34,854,174 | G/A | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.