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ABCA12

From SNPedia

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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
# SNPs22
 Max MagnitudeChromosome positionSummary
rs10210200215,064,402
rs1148631110214,987,734
rs118917780215,045,850
rs1378532890214,953,891
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
rs761557390
rs7620659370215,064,204
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.