rs28399653

plus

Geno	Mag	Summary
(A;A)	0	Lu(a)/Lu(a) genotype; i.e. Lu(a) homozygote
(A;G)	0	Lu(a)/Lu(b) genotype; Lu(a/b) heterozygote
(G;G)	0	Lu(b)/Lu(b) genotype; i.e. Lu(b) homozygote

Reference

GRCh38 38.1/141

Chromosome

19

Position

44812188

Gene

BCAM

is a	snp
is	mentioned by
dbSNP	rs28399653
dbSNP (classic)	rs28399653
ClinGen	rs28399653
ebi	rs28399653
HLI	rs28399653
Exac	rs28399653
Gnomad	rs28399653
Varsome	rs28399653
LitVar	rs28399653
Map	rs28399653
PheGenI	rs28399653
Biobank	rs28399653
1000 genomes	rs28399653
hgdp	rs28399653
ensembl	rs28399653
geneview	rs28399653
scholar	rs28399653
google	rs28399653
pharmgkb	rs28399653
gwascentral	rs28399653
openSNP	rs28399653
23andMe	rs28399653
SNPshot	rs28399653
SNPdbe	rs28399653
MSV3d	rs28399653
GWAS Ctlg	rs28399653

GMAF

0.01837

Max Magnitude

0

rs28399653 encodes the Lutheran Lu(a)(b) blood group polymorphism, perhaps the major allelic variant within the Lutheran blood group encoded by the BCAM gene.

Described originally as p.His77Arg and c.252G>A, but due to numbering updates now known also as c.230G>A, the rs28399653(A) allele encodes the rarer Lu(a) antigen of the Lu glycoprotein, and the rs28399653(G) allele encodes the more common Lu(b) antigen. The Lu(a/b) pair are equivalent to Lu(1/2).

OMIM	111200
Desc	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
Variant	0001
Related	also

OMIM	612773
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs28399653(A;A) rs28399653(C;C)
Alt	Rs28399653(A;A) rs28399653(C;C)
Reference	Rs28399653(G;G)
Significance	Non-pathogenic
Disease	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
Variation	info
Gene	BCAM
CLNDBN	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
Reversed	0
HGVS	NC_000019.9:g.45315445G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000467.1,

[PMID 21257350 ] DNA-based methods in the immunohematology reference laboratory.