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rs8176058

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/142
Chromosome7
Position142957921
GeneKEL
is asnp
is mentioned by
dbSNPrs8176058
dbSNP (classic)rs8176058
ClinGenrs8176058
ebirs8176058
HLIrs8176058
Exacrs8176058
Gnomadrs8176058
Varsomers8176058
LitVarrs8176058
Maprs8176058
PheGenIrs8176058
Biobankrs8176058
1000 genomesrs8176058
hgdprs8176058
ensemblrs8176058
geneviewrs8176058
scholarrs8176058
googlers8176058
pharmgkbrs8176058
gwascentralrs8176058
openSNPrs8176058
23andMers8176058
SNPshotrs8176058
SNPdbers8176058
MSV3drs8176058
GWAS Ctlgrs8176058
GMAF0.01745
Max Magnitude2.5

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


OMIM110900
DescKELL K/k BLOOD GROUP POLYMORPHISM
Variant0001
Relatedalso


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 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.

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


Non-ABO Blood Groups