rs761334309

A SNP in the MRPS2 gene on chromosome 9. Its most notable genotype is C;T: Carrier of a combined oxidative phosphorylation deficiency-36 mutation

Gene
MRPS2
Location
Chr 9135,503,570 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TMost notableBadCarrier of a combined oxidative phosphorylation deficiency-36 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.

Notes

From SNPedia

Notes

aka NM_016034.4(MRPS2):c.328C>T or (p.Arg110Cys) OMIM pathogenic variant; considered pathogenic for combined oxidative phosphorylation deficiency-36 (COXPD36), a recessively inherited condition

C;T

Unaffected in absence of a second mutation in the MRPS2 gene; see text and links via main rs-page

Source and license

Adapted from rs761334309 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.