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SLC3A1

From SNPedia
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ClinVarSLC3A1
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wikipediaSLC3A1
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# SNPs14
 Max MagnitudeChromosome positionSummary
rs1057519470044,320,331
rs121912691044,312,653
rs121912692044,312,653
rs121912693044,320,614
rs121912694044,280,827
rs121912695044,320,536
rs121912696044,320,424
rs121912697044,301,076
rs200483989044,286,074
rs201502095044,312,607
rs387907276044,313,931
rs698761044,320,435
rs797044609044,304,282
rs886042834044,312,754

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