SLC3A1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | SLC3A1 |
| GeneCards | SLC3A1 |
| Diseases | SLC3A1 |
| wikipedia | SLC3A1 |
| SLC3A1 | |
| gopubmed | SLC3A1 |
| EVS | SLC3A1 |
| HEFalMp | SLC3A1 |
| MyGene2 | SLC3A1 |
| 23andMe | SLC3A1 |
| # SNPs | 14 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519470 | 0 | 44,320,331 | |
| rs121912691 | 0 | 44,312,653 | |
| rs121912692 | 0 | 44,312,653 | |
| rs121912693 | 0 | 44,320,614 | |
| rs121912694 | 0 | 44,280,827 | |
| rs121912695 | 0 | 44,320,536 | |
| rs121912696 | 0 | 44,320,424 | |
| rs121912697 | 0 | 44,301,076 | |
| rs200483989 | 3 | 44,286,074 | |
| rs201502095 | 0 | 44,312,607 | |
| rs387907276 | 0 | 44,313,931 | |
| rs698761 | 0 | 44,320,435 | |
| rs797044609 | 0 | 44,304,282 | |
| rs886042834 | 0 | 44,312,754 |
Located on chromosome 2, the SLC3A1 gene encodes the rBAT subunit of the basic amino acid transport protein.Wikipedia
More than 100 mutations in the SLC3A1 gene, generally recessively inherited, have been found to cause cystinuria, characterized by the build-up of cysteine (aka cystine) in the urine and crystals that may become stones that may lodge in the kidneys or in the bladder.GHR
