rs540839115

A SNP in the UBA5 gene on chromosome 3. Its most notable genotype is T;T: Spinocerebellar ataxia-24

Gene
UBA5
Location
Chr 3132,672,101 (GRCh38)
Highest magnitude
6.9Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TBadCarrier of a mutation for spinocerebellar ataxia-24Important · 3.0
  3. T;TMost notableBadSpinocerebellar ataxia-24Very important · 6.9

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

Conditions, medicines and genes

Other UBA5 SNPs

All UBA5 SNPs

Notes

From SNPedia

Notes

UBA5 gene, c.736C>T (p.Arg246Ter) The minor allele is reported in ClinVar as being pathogenic for autosomal recessive spinocerebellar ataxia-24.

C;T

Unaffected unless carrying another pathogenic mutation in the UBA5 gene

T;T

see discussion

Source and license

Adapted from rs540839115 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.