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ABCG2

From SNPedia

is agene
is mentioned by
Full nameATP-binding cassette, sub-family G (WHITE), member 2
EntrezGene9429
PheGenI9429
VariationViewer9429
ClinVarABCG2
dbSNP9429
SADR9429
HugeNav9429
wikipediaABCG2
googleABCG2
gopubmedABCG2
EVSABCG2
HEFalMpABCG2
MyGene2ABCG2
23andMeABCG2
UniProtQ9UNQ0
EnsemblENSG00000118777
OMIM603756
# SNPs19
 Max MagnitudeChromosome positionSummary
rs1312040088,112,375
rs14020760688,118,244
rs1481012088,117,930
rs1773153888,134,227
rs1773179988,147,303
rs200190472088,118,214
rs22311372.288,139,962
rs22311423.588,131,171gout
rs223116488,094,705
rs262260488,157,772
rs262262188,109,768
rs311401888,143,429
rs311402088,162,514
rs387906869088,113,385
rs387906870088,118,158
rs414815288,139,757
rs414815588,133,515
rs685760088,144,923
rs725527133.588,131,805


ABCG2 is a secretory urate transporter in the proximal tubule. Consequently, mutations in ABCG2 that increase serum urate concentrations must be loss-of-function mutations. [PMID 19506252]

ABCG2 null alleles define the Jr(a-) blood group phenotype. [PMID 22246507]