rs515726175

A SNP in the CPT2 gene on chromosome 1. Its most notable genotype is G;G: Carnitine palmitoyltransferase II deficiency (predicted)

Gene
CPT2
Location
Chr 153,210,657 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon/normalTypical · 0.0
  2. A;GBadcarrier of one carnitine palmitoyltransferase II deficiency alleleImportant · 3.0
  3. G;GMost notableBadCarnitine palmitoyltransferase II deficiency (predicted)Very important · 5.0

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

Other CPT2 SNPs

All CPT2 SNPs

Notes

From SNPedia

Notes

aka c.983A>G, p.Asp328Gly or K328G reported in ClinVar as pathogenic for carnitine palmitoyltransferase II deficiency 23andMe name: i6009276

A;G

Unaffected in absence of a second CPT2 gene mutation

G;G

see rs515726175

Source and license

Adapted from rs515726175 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.