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Alleles of the ABO Blood Group System

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Displaying alleles 1-50 of 381.

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  Name
Alias
Gene Nucleotide
Change
Amino Acid
Change
Phenotype Authors
Pub Med IDs
Genbank
Accession Nrs.
Details
1 minisatellite -3803C; -3760G,-3717G;-3674G
minisatellite CGGG
ABO -3803A>C (when four tandem repeats are present, mutation A>G also appears at nt. -3760,-3717 and -3674) none   Yu et al.; Seltsam et al
10873628,17764507
Not
submitted
Details...
2 5'ABO +5733A,+5980C,+6152C intron1
B gene intron1 +5733A,+5980C,+6152C
ABO +5733G>A,+5980T>C,+6152T>C(3'from ATG start site) no change B Nakajima T. et al.
23560502
JQ765615 Details...
3 5'ABO +5733A,+5980C,+6152C intron1
B gene intron1 +5733A,+5980C,+6152C
ABO +5733G>A,+5980T>C,+6152T>C(3'from ATG start site) no change B Nakajima T. et al.
23560502
JQ765615 Details...
4 5'ABO +5917,+5980C,+6013A,+6072C intron1
A gene intron1 +5917A,+5980C,+6013A,+6072C
ABO +5917C>A,+5980T>C,+6013C>A,+6072T>C(3' from ATG start site) no change A Nakajima T et al.
23560502
JQ765614 Details...
5 5'ABO +5917A intron1
O gene intron1 *5917A
ABO +5917C>A (3'from ATG start site) no change O Nakajima T et al.
23560502
JQ765617 Details...
6 5'ABO +5917A,+5980C,+6013A,+6072C intron1
+5917A,+5980C,+6013A,+6072C intron1
ABO +5917C>A,+5980T>C,+6013C>A,+6072T>C (3' from ATG start site0 no change B Nakajima T. et al.
23560502
not available Details...
7 5'ABO +5917A,+5980C,+6072C intron1
B gene intron1 +5917A,+5980C,+6072C
ABO +5917C>A,5980T>C,6072T>C(3'from ATG start site) no change B Nakajima T. et al.
23560502
not available Details...
8 5'ABO +5917A,+5980C,+6072C intron1
O gene intron1 *5917A,+5980C,+6072C
ABO +5917C>A,+5980T>C,+6072T>C(3'from ATG start site} no change O Nakajima T et al.
23560502
NT_035014.4 Details...
9 5'ABO -68T in B promoter
B gene promoter -68T
ABO -68 G>T in promoter no change examined in a single Japanese individual showing a B3 phenotype and B.01/0.01.02 genotype; mixed-field agglutination, when erythrocytes incubated with anti-B; Isa K et al.
26529276
LC068776 Details...
10 5'ABO -76C in promoter
A gene promoter -76C
ABO -76 G>C in promoter no change examined in three unrelated individuals, phenotype of each is A3 and the genotypes are: A1.01/0.01.01 in one subject and A1.02/0.01.02 in the other two; mixed-field agglutination in all three when cells incubated with anti-A. Isa K et al.
26529276
LC068775 Details...
11 5'ABO -77G in promoter
B gene promoter -77G
ABO -77 C>G in promoter no change B3; shows mixed-field agglutination Takahashi Y. et al.
24602004
not available Details...
12 5'ABO A3 +5893A in intron1
A3 gene intron1 +5893A
ABO +5893 G>A in intron 1 no change A3; shows mixed field agglutination Takahashi Y et al.
24602004
not available Details...
13 5'ABO A3 +5909G intron1
A3 gene intron1 +5909G
ABO +5909A>G no change A3; shows mix field agglutination Takahashi Y et al.
24602004
not available Details...
14 5'ABO Aintron1 +5733A,+5980C
A gene intron1 +5733A,+5980C
ABO +5733G>A,+5980T>C (3' from ATG start site) no change A Nakajima T et al.
23560502
NW_001839241.2 Details...
15 5'ABO Am intron 1; deletion at the +5.8-kb site + 5733G>A,5980T>C
Am 23 bp.del.at the enhancer-like element (+5.8-kb site) in intron1
ABO 23bp deletion,nt5892-5984 within the +5.8-kb site + 5733G>A,5980T>C, in intron1 (relative to the ATG translation start site;) deletion on background of 5'ABO Aintron1 allele. absence of regulatory element, including the RUNX1 transcription factor binding site Am;reduction A antigen expression Takahashi Y. et al.
23992526
not available Details...
16 5'ABO AmB c28+5830C
AmB + GATA site mutation
ABO c.28 + 5830G>C in intron 1 (3' from ATG start site in exon1) diminished transcription activity AmB Oda A. et al.
25557060
AB982127,
(DDB/EMBL/GenBank)
Details...
17 5'ABO B311
5'UTR B311
ABO -35 to -18 del GGCGGAAGGCGGAGGCCG promoter variation B3 Xiaohong Cai;Sha Jin;Dong Xiang.
23521133
JX120365 Details...
18 5'ABO B312
5"UTR B312
ABO -72G>A on B101 background promoter variation B3 Xiaohong Cai;Sha Jin;Dong Xiang.JX120363 Details...
19 5'ABO Bm intron1; deletion at the +5.8-kb site
Bm del.enhancer-like regulatory element (+5.8-kb site) in intron 1
ABO del. segment within +5653 to +6154 in intron 1 absence of regulatory element: no expression of B epitope Bm Sano et al.
22408256
JN863720 Details...
20 5'ABO Bm+5890G,+5733A,+5980C,6162C
Bm+ GATA site mutation
ABO +5733G>A,+5890T>G,5980T>C,+6162T>C (3' from ATG start site) reduction in Bm antigen reactivity Bm neg Nakajima T et al.
23560502
KC427108 Details...
21 5'ABO intron 1;del 3.0kb at the 5.8 kb site
Bm3.0; 3.0 kb del.an at 5.8 kb egulatory site
ABO deletion 3.03 kb betwwen +4104 to 7136 in intron 1; no DNA change in exons 1 to 7. down-regulates transcription and B antigen expression in cells of erythroid lineage but not in mucus-secreting cells; decreases promoter activity Bm Sano R et al.
25523382
not available Details...
22 5'ABO intron 1;del 3.0kb at the 5.8 kb site
Bm3.0; 3.0 kb del.an at 5.8 kb egulatory site
ABO deletion 3.03 kb betwwen +4104-7136 in intron 1; no DNA change in exons 1 to 7, in gDNA down-regulates transcription and B antigen expression in cells of erythroid lineage but not in mucus-secreting cells; decreases promoter activity Bm Sano R et al.
25523382
not available Details...
23 5'ABO reference segment of intron 1
reference Bm allele
ABO reference 5'regulatory element none O Sano et al.; Nakajima et al.
22408256,23560502
JN863720 Details...
24 5'UTR A102 var.1 ABO ~ -3708 4x43bp minisatellite units; -4682A>G; -4581C>T;-4238A>G; -4105A>C; -3532G>A; -3239A>G; -2848G>A; -2818C>T; -2284A>G; -2247 2x8bp repeats;-1308 4x6bp repeats;-974ins36bp; -840G>T; -593C>T no change A102 Yan et al.
18086287
Not
submitted
Details...
25 5'UTR A201 var.1 ABO ~ -3676 3x43bp minisatellite units; -3866delT;-3678A>G;-3536G>A;-3349A>G;-3243A>G;-1907G>A;-1368C>T;-1309 3x6bp repeats;-1165G>A;-975ins36bp; no change A201 Thuresson et al.
18067502
EF419776 Details...
26 5'UTR A201 var.2 ABO ~ -3676 3x43bp minisatellite units; -3866delT;-3678A>G;-3536G>A;-3349A>G;-3243A>G;-1954G>A;-1907G>A;-1368C>T;-1309 3x6bp repeats;-1165G>A;-975ins36bp; no change A201 Thuresson et al.
18067502
EF419777 Details...
27 5'UTR A310
A310
ABO -72G>A on A102 background promoter variation A3 Xiaohong Cai;Sha Jin;Dong Xiang.JX120363 Details...
28 5'UTR B101 var.1 ABO ~ -3708: 4x43bp minisatellite units; -3532G>A; -3239A>G; -2284A>G; -1903G>A; -1631ins3A; -1368C>T; -1308del6bp; 1165G>A; -975ins36bp no change B101 Twu et al.
17076855
DQ231474 Details...
29 5'UTR B101 var.2 ABO ~ -3708 4x43bp minisatellite units; -4597C>T; -4238A>G; -4105A>C; -3532G>A; -3239A>G; -2247 2x8bp repeats;-1906G>A; -1368C>T; -1308 3x6bp repeats; -1165G>A;-974ins36bp; no change B101 Yan et al.
18086287
Not
submitted
Details...
30 5'UTR B101 var.3 ABO ~ -3708 4x43bp minisatellite units; -4581C>T;-4597C>T;-4238A>G; -4105A>C; -3532G>A; -3239A>G; -2284A>G; -2247 2x8bp repeats;-1906G>A; -1368C>T; -1308 3x6bp repeats;-1165G>A; -974ins36bp; no change B101 Yan et al.
18086287
Not
submitted
Details...
31 5'UTR B101 var.4 ABO ~ -3676 3x43bp minisatellite units; -3678A>G;-3536G>A;-3349A>G;-3243A>G;-1907G>A;-1368C>T;-1309 3x6bp repeats;-1165G>A;-975ins36bp; no change B101 Thuresson et al.
18067502
EF419778 Details...
32 5'UTR O01 var.1 ABO ~ -3708 4x43bp minisatellite units; -4682A>G; -4581C>T;-4238A>G; -4105A>C; -3532G>A; -3239A>G; -2848G>A; -2818C>T; -2247 1x8bp repeats;-1308 4x6bp repeats;-1165G>A; -974ins36bp; -840G>T; -593C>T no change O01 Yan et al.
18086287
Not
submitted
Details...
33 5'UTR O01 var.4 ABO ~-3676 3x43bp minisatellite units; -3678A>C;-3536G>A;-3349A>G;-3243A>G;-1429C>G;-1309 5x6bp repeats;-1165G>A;-975ins36bp; no change O01 Thuresson et al.
18067502
EF419779 Details...
34 5'UTR O01 var2 ABO ~ -3708 4x43bp minisatellite units; -4682A>G; -4238A>G; -4105A>C; -3532G>A; -3239A>G; -2247 2x8bp repeats;-1368C>T; -1308 3x6bp repeats; -1165G>A; -974ins36bp; no change O01 Yan et al.
18086287
Not
submitted
Details...
35 5'UTR O01 var3 ABO ~ -3708 4x43bp minisatellite units;-4597C>T; -4238A>G; -4105A>C; -3532G>A; -3239A>G; -2247 2x8bp repeats;2081G>A; -1308 5x6bp repeats; -1165G>A; -974ins36bp; no change O01 Yan et al.
18086287
not available Details...
36 5'UTR O01var.5 ABO ~-3676 3x43bp minisatellite units; -3678A>C;-3536G>A;-3349A>G;-3243A>G;-2082G>A;-1429C>G;-1309 5x6bp repeats;-1165G>A;-975ins36bp; no change O01 Thuresson et al.
18067502
EF419780 Details...
37 5'UTR O02 var.1 ABO ~-3676 3x43bp minisatellite units; -3678A>C;-3536G>A;-3349A>G;-3243A>G;-2849G>A;-2819C>T;-2241del 8bp;-1309 4 x6bp repeats;-1165G>A;-975ins36bp;-840G>T;-593C>T no change O02 Thuresson et al.
18067502
EF419781 Details...
38 5'UTR O03 var.1 ABO ~-3676 1x43bp minisatellite units;-3349A>G;-1309 4x6bp repeats;-975ins36bp;-460G>C;-307insC; intron1 +94C>T; +112A>G no change O03 Thuresson et al.
18067502,21592135
EF419782 Details...
39 5'UTR reference
5'UTR A102
ABO reference (because of ins and/or del, differences in nt numbers may occur in this region between ref and allele and among alleles) none   Twu et al.
17076855
DQ231473 Details...
40 A bantu 01 ABO 467C>T; 1061delC; intron 2 362C>T; 369C>G; 396T>C; intron 3 41G>A; 199C>T; 377C>T; 399G>A; 969T>C; 1254C>T; 1357C>T; intron 4 1delG; 28G>C; 74A>T; 215A>G; 216A>C; 673A>T; 738T>G; 1467G>A; 1496T>C; 1511T>G;1623C>CC exon 4 del; P156L; 354fs + 21 aa A bantu Hosseini-Maaf et al.
15877647
AY805750 Details...
41 A101 ABO reference sequence coding region reference A1 Yamamoto F et al.; Seltsam et al.; Roubinet et al.
2333095,12829588,15104652
AF134412,
AJ536122,AF448199
Details...
42 A101 ABO reference genomic sequence reference A101 Seltsam et al; Blasczyk R.
12829588
AJ536122 Details...
43 A102 ABO 467C>T P156L A1 Yamamoto F et al.;
2104828
AF134413 Details...
44 A103 ABO 467C>T; 564C>T P156L; none A1 Ogasawara K et al.
8641696
D82825 Details...
45 A104 ABO 297A>G T99T A1 Ogasawara K et al.
8641696
Not
submitted
Details...
46 A105 ABO 467C>T; intron 6: 163T>C; 179C>T P156L A1 Ogasawara K et al.
11398963
AB052645 Details...
47 A106 ABO 297A>G; 467C>T; intron 6: 42G>T; 163C>t; 179C>T; 271A>G; 280C>T; 446A>G; 786A>G none; P156L A1 Ogasawara K et al.
11398963
AB052649 Details...
48 A107 ABO intron2:362C>T;369C>G:396T>C;437C>T;539C>A; intron3:575C>T no change   Stabentheiner S. et al.FR828566 Details...
49 A108 ABO 554C>T S185F   Stabentheiner et al.FR828567 Details...
50 A109 ABO 106G>T;intron2:396T>C;437C>T;intron3 205C>T;479C>T;525A>T;969T>C;1063A>G;1244C>T;1278T>C V36F   Stabentheiner S. et al.FR828573 Details...
 
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Reference alleles for the ABO blood group system
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