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Table 1 Polymorphisms reported at the STSL locus

From: A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans

Name

Position in the gene

Polymorphism

dbSNP cluster ID

Restriction enzyme site altered

Nucleotide Position

ABCG5

     

P9P

Exon 1

C/T

rs49854016

BstN 1

22881725

R50C*

Exon 2

C/T

rs6756629

-

22881023

V523I

Exon 11

G/A

ss49854017

-

22863069

C600Y

Exon 13

G/A

ss49854018

-

22856345

Q604E*

Exon 13

G/C

rs6720173

Sml I

22856334

V622M

Exon 13

G/A

ss49854019

-

22856280

ABCG8

     

5' UTR-41

5' UTR

C/T

ss49854020

BstE II

22882085

5' UTR-19*

5' UTR

T/G

rs3806471

Tsp45 I

22882107

P17P

Exon 1

G/C

ss49854021

-

22882176

D19H*

Exon 1

G/C

rs11887534

-

22882180

INT1-21*

Intron 1

C/A

ss4148209

Mnl I

22887558

INT1-7*

Intron 1

C/T

ss4148210

BsmA 1

22887572

C54Y*

Exon 2

G/A

ss4148211

SexA I

22887676

E238L*

Exon 6

G/A

ss49854010

-

22895692

A259V*

Exon 6

C/T

ss49854012

Hae III

22895756

Q340E

Exon 7

C/G

ss49854024

-

22915101

T400K*

Exon 8

C/A

ss4148217

Mse I

22915366

M429V

Exon 9

G/A

 

-

22916932

INT9-19

Intron 9

C/T

ss49854025

-

22917460

INT10-50*

Intron 10

C/T

ss4148220

-

22918168

A565A*

Exon 11

C/T

ss4148221

-

22918424

G575R*

Exon 11

G/C

rs49584011

Hha I

22918452

A632V*

Exon 13

C/T

rs6544718

Sty I

22920858

  1. *Only these SNPs were found to be variant in the present study and the haplotypes (See Table 2 and 3) are ordered with these reported in sequence. The SNPs shown in bold (4th column) are ones that also part of the HapMap dataset. Nucleotide numbering according to GenBank Sequence ID NT_022184.
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BMC Medical Genetics

ISSN: 1471-2350

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