Gene Name :
BCAM
Gene Id :
ENSG00000187244
Protein Id :
P50895
Variant details
| Gene Alias : | "CD239, LU" | ||||||||||||||
| ISBT Version : | v5.0 01-MAR-2020 | ||||||||||||||
| Variant phenotype : | LU:1 or Lu(a+) | ||||||||||||||
| Phenotype category : | NA | ||||||||||||||
| Phenotype Description : | NA | ||||||||||||||
| Variant Type : | Single Nucleotide Variation | ||||||||||||||
| Reference Allele name : | LU*02 or LU*B | ||||||||||||||
| Allele name : | LU*01 or LU*A | ||||||||||||||
| Reference allele : | G | ||||||||||||||
| Alternate allele : | A | ||||||||||||||
| Nucleotide_Change : | c.230G>A | ||||||||||||||
| Protein Change : | p.Arg77His | ||||||||||||||
| HGVS nomenclature : |
|
||||||||||||||
| External Variation ID : | rs28399653 | ||||||||||||||
Gene Alias :
"CD239, LU"
ISBT Version :
v5.0 01-MAR-2020
Variant phenotype :
LU:1 or Lu(a+)
Phenotype category :
NA
Phenotype Description :
NA
Variant Type :
Single Nucleotide Variation
Reference Allele name :
LU*02 or LU*B
Allele name :
LU*01 or LU*A
Reference allele :
G
Alternate allele :
A
Nucleotide Change :
c.230G>A
Protein Change :
p.Arg77His
HGVS nomenclature :
| Nucleotide |
|---|
| NC_000019.9:g.45315445G>A |
| NC_000019.10:g.44812188G>A |
| Protein |
|---|
| NP_005572.2:p.Arg77His |
External Variation ID :
Global Allele Frequencies
| gnomAD (v2.1.1 - Exomes) : | 0.0214 | |||||
| ExAC : | ||||||
| ESP 6500 : | ||||||
| 1000 Genomes Project : | 0.0167732 | |||||
| Greater Middle Eastern Project : | 0.012097 | |||||
| Genome Asia : | ||||||
| Iranome : | ||||||
gnomAD (v2.1.1 - Exomes) :
0.0214
ExAC :
NA
ESP 6500 :
NA
1000 Genomes Project :
0.0167732
Greater Middle Eastern Project :
0.012097
Clinical Significance
| Clinical relevance : | NA | |||||
| Ancestry : | NA | |||||
| Genotype Phenotype Details : | NA | |||||
| Validation Status : | Validated | |||||
| Validation details : | Molecular genotyping and Cell line studies | |||||
Clinical relevance :
NA
Ancestry :
NA
Genotype Phenotype Details :
NA
Validation Status :
Validated
Validation details :
Molecular genotyping and Cell line studies
References :
"Parsons SF, Mallinson G, Daniels GL, Green CA, Smythe JS, Anstee DJ. Use of domain-deletion mutants to locate Lutheran blood group antigens to each of the five immunoglobulin superfamily domains of the Lutheran glycoprotein: elucidation of the molecular basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. Blood. 1997 Jun 1;89(11):4219-25. PMID: 9166867.
El Nemer W, Rahuel C, Colin Y, Gane P, Cartron JP, Le Van Kim C. Organization of the human LU gene and molecular basis of the Lu(a)/Lu(b) blood group polymorphism. Blood. 1997 Jun 15;89(12):4608-16. PMID: 9192786.
ISBT-Red Cell Immunogenetics and Blood Group Terminology"
El Nemer W, Rahuel C, Colin Y, Gane P, Cartron JP, Le Van Kim C. Organization of the human LU gene and molecular basis of the Lu(a)/Lu(b) blood group polymorphism. Blood. 1997 Jun 15;89(12):4608-16. PMID: 9192786.
ISBT-Red Cell Immunogenetics and Blood Group Terminology"