rs1135062

A SNP in the BCAM gene on chromosome 19. Its most notable genotype is A;A: Au(a)/Au(a) genotype; basically, Au(a) homozygote

Gene
BCAM
Location
Chr 1944,819,487 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
26%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableGoodAu(a)/Au(a) genotype; basically, Au(a) homozygoteTypical · 0.058% of people
  2. A;GGoodAu(a)/Au(b) genotype; Au(a/b) heterozygoteTypical · 0.033% of people
  3. G;GGoodAu(b)/Au(b) genotype; Au(b) homozygoteTypical · 0.09% of people

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

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 58% A;G 33% G;G 9%
  • European ancestry (Utah)A;A 54% A;G 39% G;G 7%
  • Han Chinese (Beijing)A;A 79% A;G 21% G;G <1%
  • Japanese (Tokyo)A;A 86% A;G 14% G;G 0%
  • Yoruba (Nigeria)A;A 30% A;G 51% G;G 19%
  • African ancestry (Southwest US)A;A 32% A;G 49% G;G 19%
  • Chinese (Denver)A;A 87% A;G 13% G;G 0%
  • Gujarati IndianA;A 65% A;G 31% G;G 4%
  • Luhya (Kenya)A;A 43% A;G 38% G;G 19%
  • Mexican ancestry (Los Angeles)A;A 65% A;G 30% G;G 5%
  • Maasai (Kenya)A;A 47% A;G 43% G;G 10%
  • TuscanA;A 52% A;G 36% G;G 12%

Notes

From SNPedia

Notes

rs1135062 encodes the Auberger blood group polymorphism, an allelic variant within the Lutheran blood group encoded by the BCAM gene. Described originally as p.Thr539Ala and c.1637A>G, but due to numbering updates now known also as c.1615A>G, the rs1135062(A) allele encodes the more common Au(a) antigen of the Lu glycoprotein, and the rs1135062(G) allele encodes the Au(b) antigen. The Au(a/b) pair are equivalent to Lu(18/19).

Source and license

Adapted from rs1135062 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.