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Table 1 Polymorphic nucleotide positions in introns 2–5 of the ABO gene.

From: ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase

 

Intron 2 (724 bp) nt. position

          

Allele

126

209

362

369

396

437

539

          

dbSNP rs

  

2073828

2073827

687289

687621

2073826

          

A 1

A

C

C

C

T

C

C

          

A 2

A

C

C

C

T

C

C

          

B

A

C

C

C

T

C

C

          

O 1

A

C

T

G

C

T

A

          

O 2

AA

C/T *

T

G

C

T

A

          

O 1v

A

C

C

C

C

T

C

          

new hybrid

A

C

C

C

C

T

C

          
 

Intron 3 (1451 bp) nt. position

   

Allele

205

354

399

479

525

575

969

1063

1095

1096

1170

1244

1278

1357

   

dbSNP rs

493211

 

8176701

579622

579483

8176702

575259

574347

  

8176704

613423

551322

624601

   

A 1

C

G

G

C

A

C

T

A

C

A

C

C

T

C

   

A 2

C

G

G

C

A

C

T

A

C

A

T

C

T

C

   

B

C

G

G

C

A

C

T

A

C

A

C

C

T

C

   

O 1

C

G

G

C

A

T

T

A

C

A

C

C

T

C

   

O 2

C

G

G

C

A

C

T

A

del

del

C

C

T

C

   

O 1v

T

G

G

T

T

C

C

G

C

A

C

T

C

T

   

new hybrid

C

A

A

T

T

C

C

G

C

A

C

T

C

T

   
 

Intron 4 (1686 bp) nt. position

Allele

28

73

102

114

163

215

216

346

375

738

1092

1176

1467

1496

1511

1623

1678

dbSNP rs

7848145

6151203

8176707

625593

8176708

547495

626035

626792

 

638756

 

517414

514708

641943

641959

8176712

4962040

A 1

G

C

C

C

G

A

A

T

C

T

C

C

G

T

T

C

T

A 2

G

C

C

C

G

A

A

T

C

T

C

C

G

T

T

C

T

B

G

C

C

C

G

A

A

T

C

T

C

C

G

T

T

C

T

O 1

G

C

C/A

C

G

A

A

T

C

T

C

C

G

T

T

C

C

O 2

G

C

C

C

G

A

A

T

T

T

T

C

A

G

G

C

T

O 1v

C

**

C

T

A

G

C

G

C

G

C

T

A

G

G

CC

T

new hybrid

C

**

C

T

A

G

C

G

C

G

C

T

A

G

G

CC

T

 

Intron 5 (554 bp) nt. position

         

Allele

91

103

266

306

336

450

527

530

         

dbSNP rs

 

8176713

 

8176714

8176715

8176717

8176718

          

A 1

T

C

G

C

G

C

G

A

         

A 2

T

C

G

C

G

C

G

A

         

B

T

C

G

C

G

C

G

A/ G

         

O 1

T

C

G

C

A

C

G

A

         

O 2

C

CCCC

A

C

G

C

G

A

         

O 1v

T

CCCC

G

T

G

A

A

A

         

new hybrid

T

CCCC

G

C

G

C

G

A

         
  1. * C/T etc. indicates dimorphism at this position in the same allele from different individuals. ** Insertion of GTGTGGACAGAAG between nt. 72C and 73C of the consensus (A1 [A101]) sequence in intron 4. Deviations from the consensus sequence are highlighted (bold italics).