ABCG8
From SNPedia
is a | gene |
is | mentioned by |
Full name | ATP-binding cassette, sub-family G (WHITE), member 8 |
EntrezGene | 64241 |
PheGenI | 64241 |
VariationViewer | 64241 |
ClinVar | ABCG8 |
GeneCards | ABCG8 |
dbSNP | 64241 |
Diseases | ABCG8 |
SADR | 64241 |
HugeNav | 64241 |
wikipedia | ABCG8 |
ABCG8 | |
gopubmed | ABCG8 |
EVS | ABCG8 |
HEFalMp | ABCG8 |
MyGene2 | ABCG8 |
23andMe | ABCG8 |
UniProt | Q9H221 |
Ensembl | ENSG00000143921 |
OMIM | 605460 |
# SNPs | 23 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs11887534 | 3 | 43,839,108 | |
rs119480070 | 0 | 43,837,870 | |
rs137852987 | 0 | 43,872,094 | |
rs137852988 | 0 | 43,875,377 | |
rs137852989 | 0 | 43,877,865 | |
rs137852990 | 0 | 43,852,692 | |
rs137852991 | 0 | 43,873,809 | |
rs137852992 | 0 | 43,877,591 | |
rs137852993 | 0 | 43,852,483 | |
rs137854891 | 0 | 43,846,309 | |
rs3806471 | 0 | 43,839,035 | |
rs387906323 | 0 | 43,851,808 | |
rs387906912 | 0 | 43,838,634 | |
rs4131229 | 0 | 43,830,928 | |
rs41360247 | 0 | 43,846,517 | |
rs4148211 | 0 | 43,844,604 | |
rs4148217 | 0 | 43,872,294 | |
rs4245791 | 0 | 43,847,292 | |
rs4299376 | 0 | 43,845,437 | |
rs4953023 | 0 | 43,846,861 | |
rs6544713 | 0 | 43,846,742 | |
rs6544718 | 0 | 43,877,786 | |
rs6756629 | 0 | 43,837,951 |
ABCG8, ATP-binding cassette G8, is a protein transporter expressed in the liver and intestines that limits sterol absorption.
rs11887534 is associated with gallstones.
Several mutations cause sitosterolemia, a rare lipid metabolic disorder.