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rs1058396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Jk(a-/b+) Kidd blood group, barring other variants
(A;G) 1 Jk(a+/b+) Kidd blood group, barring other variants
(G;G) 1 Jk(a+/b-) Kidd blood group, barring other variants
ReferenceGRCh38 38.1/141
Chromosome18
Position45739554
GeneLOC105372093, SLC14A1
is asnp
is mentioned by
dbSNPrs1058396
dbSNP (old)rs1058396
ClinGenrs1058396
ebirs1058396
HLIrs1058396
Exacrs1058396
Gnomadrs1058396
Varsomers1058396
Maprs1058396
PheGenIrs1058396
Biobankrs1058396
1000 genomesrs1058396
hgdprs1058396
ensemblrs1058396
gopubmedrs1058396
geneviewrs1058396
scholarrs1058396
googlers1058396
pharmgkbrs1058396
gwascentralrs1058396
openSNPrs1058396
23andMers1058396
23andMe allrs1058396
SNPshotrs1058396
SNPdbers1058396
MSV3drs1058396
GWAS Ctlgrs1058396
Merged fromRs17859515
GMAF0.45
Max Magnitude1

rs1058396, also known as c.838G>A, p.Asp280Asn and D280N, is a variant in the SLC14A1 gene on chromosome 18 that encodes the Jk(a)/Jk(b) Kidd Blood Group antigens. The rs1058396(G) allele encodes the Asp amino acid defining the Jk(a) antigen, and the (A) allele encodes the Asn defining Jk(b).[PMID 9215669]

? (A;A) (A;G) (G;G) 28
OMIM111000
Desc
Variant0001
Relatedalso


ClinVar
Risk Rs1058396(A;A)
Alt Rs1058396(A;A)
Reference Rs1058396(G;G)
Significance Non-pathogenic
Disease KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)
Variation info
Gene SLC14A1
CLNDBN KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)
Reversed 0
HGVS NC_000018.9:g.43319519G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019290.2,



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


Bladder Cancer

Non-ABO Blood Groups


[PMID 29028944OA-icon.png] Identification and replication of the interplay of four genetic high risk variants for urinary bladder cancer.