rs10264272

A SNP in the CYP3A5 gene on chromosome 7. Its most notable genotype is T;T: CYP3A5*6 homozygote; nonexpressor for CYP3A5

Gene
CYP3A5
Location
Chr 799,665,212 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
5%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodnormalTypical · 0.086% of people
  2. C;TNot ratedcarrier of a silent polymorphism in CYP3A5Typical · 0.012% of people
  3. T;TMost notableBadCYP3A5*6 homozygote; nonexpressor for CYP3A5Worth knowing · 2.52% of people

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

Frequency

Share of each genotype in 9 HapMap populations.

  • AverageC;C 86% C;T 12% T;T 2%
  • European ancestry (Utah)C;C 100% C;T 0% T;T 0%
  • Han Chinese (Beijing)C;C 99% C;T <1% T;T 0%
  • Japanese (Tokyo)C;C 99% C;T <1% T;T 0%
  • Yoruba (Nigeria)C;C 70% C;T 27% T;T 3%
  • African ancestry (Southwest US)C;C 84% C;T 16% T;T 0%
  • Luhya (Kenya)C;C 56% C;T 36% T;T 8%
  • Mexican ancestry (Los Angeles)C;C 95% C;T 5% T;T 0%
  • Maasai (Kenya)C;C 73% C;T 25% T;T 2%
  • TuscanC;C 99% C;T 1% T;T 0%

Other CYP3A5 SNPs

All CYP3A5 SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Notes

rs10264272, also known as 14690G>A, is a SNP in the CYP3A5 gene. indicates that this corresponds with CYP3A5*6, however, this seems doubtful. CYP3A5 allele nomenclature found at http://www.cypalleles.ki.se/cyp3a5.htm indicates that CYP3A5*6 (also known as 14690G>A) is a splicing defect resulting in essentially no activity in the gene. This does not correspond with dbSNP, which indicates that is a nucleotide substition (624G-A) which only results in a "silent" substitution of AAG (Lysine) to AAA (Lysine).

Source and license

Adapted from rs10264272 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.