rs8176058

minus

Geno	Mag	Summary
(C;C)	0	common; Kell group, k antigen (k/k)
(C;T)	1.4	KELL Blood group; K/k heterozygote
(T;T)	2.5	KELL blood group; K antigen (K/K)

Reference

GRCh38 38.1/142

Chromosome

7

Position

142957921

Gene

KEL

is a	snp
is	mentioned by
dbSNP	rs8176058
dbSNP (classic)	rs8176058
ClinGen	rs8176058
ebi	rs8176058
HLI	rs8176058
Exac	rs8176058
Gnomad	rs8176058
Varsome	rs8176058
LitVar	rs8176058
Map	rs8176058
PheGenI	rs8176058
Biobank	rs8176058
1000 genomes	rs8176058
hgdp	rs8176058
ensembl	rs8176058
geneview	rs8176058
scholar	rs8176058
google	rs8176058
pharmgkb	rs8176058
gwascentral	rs8176058
openSNP	rs8176058
23andMe	rs8176058
SNPshot	rs8176058
SNPdbe	rs8176058
MSV3d	rs8176058
GWAS Ctlg	rs8176058

GMAF

0.01745

Max Magnitude

2.5

The K/k blood group arises from a point mutation in rs8176058, based on an amino acid change from threonine 193 (in the k antigen) to methionine 193 (in the K antigen) in the Kell glycoprotein. The K antigen is more potent at triggering an immune reaction than the k antigen.[1]

At the cDNA level, the change is represented by c.578C>T, or in some older literature, c.698C>T. The c.578C allele leads to the threonine (k antigen), and the c.578T allele to the methionine (K antigen).

?

(C;C) (C;T) (T;T)

28

OMIM	110900
Desc	KELL K/k BLOOD GROUP POLYMORPHISM
Variant	0001
Related	also

ClinVar
Risk	rs8176058(G;G) Rs8176058(T;T)
Alt	rs8176058(G;G) Rs8176058(T;T)
Reference	Rs8176058(C;C)
Significance	Non-pathogenic
Disease	KELL K/k BLOOD GROUP POLYMORPHISM
Variation	info
Gene	KEL
CLNDBN	KELL K/k BLOOD GROUP POLYMORPHISM
Reversed	1
HGVS	NC_000007.13:g.142655008G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019295.2,

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

[PMID 7849312] Molecular basis of the Kell (K1) phenotype.

Non-ABO Blood Groups