rs200483989

A SNP in the SLC3A1 gene on chromosome 2. Its most notable genotype is C;T: Carrier of a cystinuria mutation

Gene
SLC3A1
Location
Chr 244,286,074 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadCarrier of a cystinuria mutationImportant · 3.0

On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other SLC3A1 SNPs

All SLC3A1 SNPs

Notes

From SNPedia

Notes

aka c.808C>T (p.Arg270Ter or R270X)

C;T

Most likely unaffected in absence of a second SLC3A1 gene mutation

Source and license

Adapted from rs200483989 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.