| GENE NAME | SLC29A3 |
| CHROMOSOME | 10 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000198246 |
| UNIPROT ACCESSION NUMBER | Q9BZD2 |
| GO MOLECULAR FUNCTION | ['nucleoside transmembrane transporter activity', 'protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa05034; R-HSA-1643685; R-HSA-382551; R-HSA-425397; R-HSA-425407; R-HSA-5619063; R-HSA-5619102; R-HSA-5619115; R-HSA-83936 |
| 6 combinations linked to SLC29A3 | OLI1573; OLI1577; OLI1516; OLI1563; OLI1513; OLI1560 |
| 5 variants linked to SLC29A3 | SLC29A3:c.971C>T, p.Pro324Leu; SLC29A3:c.325G>A, p.Val109Ile; SLC29A3:c.1088G>A, p.Arg363Gln; SLC29A3:c.707C>T, p.Thr236Met; SLC29A3:c.1001A>G, p.Asn334Ser |
| 2 diseases linked to SLC29A3 | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |