rs1135062
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | Au(a)/Au(a) genotype; basically, Au(a) homozygote |
| (G;G) | 0 | Au(b)/Au(b) genotype; Au(b) homozygote |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 44819487 |
| Gene | BCAM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1135062 |
| dbSNP (classic) | rs1135062 |
| ClinGen | rs1135062 |
| ebi | rs1135062 |
| HLI | rs1135062 |
| Exac | rs1135062 |
| Gnomad | rs1135062 |
| Varsome | rs1135062 |
| LitVar | rs1135062 |
| Map | rs1135062 |
| PheGenI | rs1135062 |
| Biobank | rs1135062 |
| 1000 genomes | rs1135062 |
| hgdp | rs1135062 |
| ensembl | rs1135062 |
| geneview | rs1135062 |
| scholar | rs1135062 |
| rs1135062 | |
| pharmgkb | rs1135062 |
| gwascentral | rs1135062 |
| openSNP | rs1135062 |
| 23andMe | rs1135062 |
| SNPshot | rs1135062 |
| SNPdbe | rs1135062 |
| MSV3d | rs1135062 |
| GWAS Ctlg | rs1135062 |
| GMAF | 0.2645 |
| Max Magnitude | 0 |
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).
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs1135062(G;G) |
| Alt | Rs1135062(G;G) |
| Reference | Rs1135062(A;A) |
| Significance | Non-pathogenic |
| Disease | AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) |
| Variation | info |
| Gene | BCAM |
| CLNDBN | AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45322744A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000468.2, |
