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ABCA12

From SNPedia

is agene
is mentioned by
Full nameATP-binding cassette, sub-family A (ABC1), member 12
EntrezGene26154
PheGenI26154
VariationViewer26154
ClinVarABCA12
GeneCardsABCA12
dbSNP26154
DiseasesABCA12
SADR26154
HugeNav26154
wikipediaABCA12
googleABCA12
gopubmedABCA12
EVSABCA12
HEFalMpABCA12
MyGene2ABCA12
23andMeABCA12
UniProtQ86UK0
EnsemblENSG00000144452
OMIM607800
# SNPs26
 Max MagnitudeChromosome positionSummary
rs10210200215,064,402
rs10647936950214,932,640
rs10853080320214,947,489
rs1148631110214,987,734
rs118917780215,045,850
rs1378532890214,953,891
rs1995032690214,937,608
rs2676066220214,990,791
rs289402682214,986,563
rs289402690214,986,566
rs289402702214,982,225
rs289402712214,980,608
rs289405682214,978,830
rs3879062840214,945,021
rs3879062850214,978,432
rs7260700214,948,607
rs7553912360214,997,733
rs75600080215,011,442
rs7567712900215,007,788
rs7575207570215,019,784
rs7615573900214,966,945
rs7620659370215,064,204
rs7631825540215,011,969
rs7634813750215,011,631
rs7677072480215,064,205
rs8860392960215,018,130

ABCA12, ATP-binding cassette transporter 12 is a protein believed to transport lipids. Mutations cause ichthyosis, harlequin and lamellar types. Many different SNPs that disrupt the protein have been found in Ichthyosis patients.