Name | Position in the gene | Polymorphism | dbSNP cluster ID | Restriction enzyme site altered | Nucleotide Position |
---|---|---|---|---|---|
ABCG5 | Â | Â | Â | Â | Â |
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 | Â | Â | Â | Â | Â |
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 | Â | - | 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 |