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Table 1 SNPs and haplotypes H1-H6 extracted from DEF cluster b covering clones

From: Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

Gene

Pos. mRNA1

Haplotypes2

Change

  

H1

H2

H3

H4

H5

H6

 

DEFB107

13

G

/

/

T

G

T

F5V

DEFB105

107

C

/

C

T

C

C

P36L

DEFB106

125

T

/

C

T

T

T

Silent

DEFB104

42

A

A

A

A

A

G

V10I

DEFB4

78

T

C

C

C

C

C

Silent

 

120

T

T

T

T

C

T

Silent

 

275

C

C

C

C

T

C

3'UTR

 

335

C

C

C

C

G

C

3'UTR

DEFB108

138

A

A

A

A

T

/

Silent

 

111

C

C

C

C

T

/

Silent

 

97

G

G

A

A

G

/

G33S

DEFB109p

133

A

A

A

/

G

/

V45I

 

132

C

C

A

/

A

/

K44N

 

119

C

C

G

/

G

/

R40T

 

104

T

T

C

/

C

/

S35F

 

41

C

C

/

/

A

/

S14ochre

  1. 1 mRNA positions are referred to the following human mRNAs: DEFB107 = [GenBank:AY122467]; DEFB105 = [GenBank:NM_152250]; DEFB106 = [GenBank:NM_152251]; DEFB104 = [GenBank:NM_080389], DEFB4 = [GenBank:NM_004942]; DEFB108 = [GenBank:AF540980]; DEFB109p = [GenBank:AF540981].
  2. 2 Haplotypes are derived from the following clones (libraries): H1 = 9, 10 (both RP11); H2 = 8 (RP13), 18, 19 (both RP11); H3 = 11 (RP11); H4 = 12 (RP11); H5 = 13, 14, 29 (all SCb); H6 = 28 (SCb).
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BMC Genomics

ISSN: 1471-2164

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