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.
- A;AMost notableGoodAu(a)/Au(a) genotype; basically, Au(a) homozygote
- A;GGoodAu(a)/Au(b) genotype; Au(a/b) heterozygote
- G;GGoodAu(b)/Au(b) genotype; Au(b) homozygote
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%
Related
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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.