rs8176058
From SNPedia
Orientation | minus |
Stabilized | 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 |
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 |
---|---|---|
|
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.