009 Kidd Blood Group
The Kidd blood group system consists of 3 antigens carried on a multipass type 3 membrane glycoprotein that functions as the primary urea transporter on RBCs. It consists of 389 amino acids and has 10 membrane-spanning domains.
Reference Info
Gene: SLC14A1
Allele: JK*01. Acceptable: JK*A, or Jka if inferred by haemagglutination
Seq: NG_011775.4
(genomic), NM_015865.7 (transcript)
Entrez GeneID: 6563
Number of exons: 10
Allele: JK*01. Acceptable: JK*A, or Jka if inferred by haemagglutination
Seq: NG_011775.4
(genomic), NM_015865.7 (transcript)
Entrez GeneID: 6563
Number of exons: 10
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | JK:1 or Jk(a+) | JK*01 or JK*A | c.838A>G | Exon 8 | p.Asn280Asp | chr18:45739554 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.01 | c.1_341del | Exon 3 | p.0 deletion of exons 3-4 | chr18:45730321 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.02 | c.202C>T | Exon 4 | p.Gln68* | chr18:45731065 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.03 | c.582C>G | Exon 6 | p.Tyr194* | chr18:45736567 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.04 | c.956C>T | Exon 9 | p.Thr319Met | chr18:45748385 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.05 | c.561C>A | Exon 6 | p.Tyr187* | chr18:45736546 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.06 | c.342-1G>A | Intron 4 |
p.Arg114_Thr156del Alternative splicing |
chr18:45734273 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.07 | c.723delA | Exon 7 | p.Gly243Alafs*20 | chr18:45739222 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.08 | c.866A>G | Exon 8 | p.Asn289Ser | chr18:45739582 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.09 | c.27_50del | Exon 3 | p.Val10_Arg17del | chr18:45730347 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.10 | c.811+5G>A | Intron 7 |
p.Ala270fs Alternative splicing |
chr18:45739315 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.11 |
c.130G>A c.1068insA |
Exon 3
Exon 10 |
p.Glu44Lys p.Asp356Lysfs*11 |
chr18:45730450 chr18:45749849 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.12 | c.516_530del | Exon 6 | pVal175_Pro179del | chr18:45736501 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.13 | c.327delG | Exon 4 | p.Leu109Phefs*8 | chr18:45731190 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.14 | c.432G>A | Exon 5 | p.Gly298Glu | chr18:45734364 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.15 | c.757_759delTCC | Exon 7 | p.Ser253del | chr18:45739256 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.16 | c.893G>A | Exon 8 | p.Gly298Glu | chr18:45739609 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.17 |
c.118G>A c.499A>G |
Exon 3
Exon 6 |
p.Gly40Ser p.Met167Val |
chr18:45730438 chr18:45736484 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.18 | c.190C>T | Exon 4 | p.Arg64Trp | chr18:45731053 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.19 | c.810G>A | Exon 7 | p.Ala270Ala | chr18:45739309 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.20 |
c.28G>A c.226G>A c.303G>A c.588A>G |
Exon 3
Exon 4 Exon 4 Exon 6 |
p.Val10Met p.Val76Ile pVal101Val p.Pro196Pro |
chr18:45730348 chr18:45731089 chr18:45731166 chr18:45736573 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*01N.21 |
c.130G>A c.220A>G |
Exon 3
Exon 4 |
p.Glu44Lys p.Asn74Asp |
chr18:45730450 chr18:45731083 |
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| 1:Weak Alleles | Jk(a+W) | JK*01W.01 | c.130G>A | Exon 3 | p.Glu44Lys | chr18:45730450 |
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| 1:Weak Alleles | Jk(a+W) | JK*01W.02 | c.511T>C | Exon 6 | p.Trp171Arg | chr18:45736496 |
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| 1:Weak Alleles | Jk(a+W) | JK*01W.03 | c.28G>A | Exon 3 | p.Val10Met | chr18:45730348 |
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| 1:Weak Alleles | Jk(a+W) | JK*01W.04 | c.226G>A | Exon 4 | p.Val76Ile | chr18:45731089 |
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| 1:Weak Alleles | Jk(a+W) | JK*01W.05 | c.742G>A | Exon 7 | p.Ala248Thr | chr18:45739241 |
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| 1:Weak Alleles | Jk(a+w) | JK*01W.06 | c.588A>G | Exon 6 | p.Pro196Pro | chr18:45736573 |
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| 1:Weak Alleles | Jk(a+w) | JK*01W.07 | c.486T>A | Exon 6 | p.Ser162Arg | chr18:45736471 |
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| 1:Weak Alleles | Jk(a+w) | JK*01W.08 | c.814C>T | Exon 8 | p.Leu272Phe | chr18:45739530 |
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| 1:Weak Alleles | Jk(a+w) | JK*01W.09 | c.134T>C | Exon 3 | p.Leu45Pro | chr18:45730454 |
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| 1:Weak Alleles | Jk(a+w) | JK*01W.10 | c.350T>C | Exon 5 | p.Ile117Thr | chr18:45734282 |
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| 0:Antigen Alleles | JK:2 or Jk(b+) | JK*02 or JK*B | c.838G>A | Exon 8 | p.Asp280Asn | chr18:45739554 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.01 | c.342-1G>A | Intron 4 |
p.Arg114_Thr156del Alternative splicing |
chr18:45734273 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.02 | c.342-1G>C | Intron 4 |
p.Arg114_Thr156del Alternative splicing |
chr18:45734273 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.03 | c.222C>A | Exon 4 | p.Asn74Lys | chr18:45731085 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.04 | c.663+1G>T | Intron 6 |
p.Leu223fs*? Alternative splicing |
chr18:45736649 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.05 | c.723delA | Exon 7 | p.Gly243Alafs*20 | chr18:45739222 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.06 | c.871T>C | Exon 8 | p.Ser291Pro | chr18:45739587 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.07 | c.896G>A | Exon 8 | p.Gly299Glu | chr18:45739612 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.08 | c.956C>T | Exon 9 | p.Thr319Met | chr18:45748385 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.09 | c.191G>A | Exon 4 | p.Arg64Gln | chr18:45731054 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.10 | c.194G>A | Exon 4 | p.Gly65Asp | chr18:45731057 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.11 |
c.499A>G c.512G>A |
Exon 6
Exon 6 |
p.Met167Val p.Trp171* |
chr18:45736484 chr18:45736497 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.12 |
c.437T>C c.499A>G |
Exon 5
Exon 6 |
p.Leu146Pro p.Met167Val |
chr18:45734369 chr18:45736484 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.13 |
c.499A>G c.536C>G |
Exon 6
Exon 6 |
p.Met167Val p.Pro179Arg |
chr18:45736484 chr18:45736521 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.14 | c.1038delG | Exon 10 | p.Thr346Thrfs*5 | chr18:45749819 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.15 | c.160_161insC | Exon 4 | p.Val54Argfs*7 | chr18:45731023 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.16 | c.856delT | Exon 8 | p.Trp286Glyfs*67 | chr18:45739572 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.17 | c.810G>A | Exon 7 | p.Ala270Ala | chr18:45739309 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.18 | c.561C>A | Exon 6 | p.Tyr187* | chr18:45736546 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.19 | c.719G>A | Exon 7 | p.Trp240* | chr18:45739218 |
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| 4:Null Alleles | JK:-3 or Jk(a-b-) | JK*02N.20 | c.647_648delAC | Exon 6 | p.Asp216Alafs*21 | chr18:45736632 |
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| 1:Weak Alleles | Jk(b+W) | JK*02W.01 | c.548C>T | Exon 6 | p.Ala183Val | chr18:45736533 |
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| 1:Weak Alleles | Jk(b+W) | JK*02W.02 | c.718T>A | Exon 7 | p.Trp240Arg | chr18:45739217 |
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| 1:Weak Alleles | Jk(b+w) | JK*02W.03 | c.588A>G | Exon 6 | p.Pro196Pro | chr18:45736573 |
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| 1:Weak Alleles | Jk(b+w) | JK*02W.04 | c.130G>A | Exon 3 | p.Glu44Lys | chr18:45730450 |
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| 1:Weak Alleles | Jk(b+w) | JK*02W.05 | c.277G>A | Exon 4 | p.Ala93Thr | chr18:45731140 |
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| 1:Weak Alleles | Jk(b+w) | JK*02W.06 |
c.998T>A c.1095T>C |
Exon 10
Exon 10 |
p.VAl333Asp p.Ser365Ser |
chr18:45749779 chr18:45749876 |
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