ABCA12
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ATP-binding cassette, sub-family A (ABC1), member 12 |
| EntrezGene | 26154 |
| PheGenI | 26154 |
| VariationViewer | 26154 |
| ClinVar | ABCA12 |
| GeneCards | ABCA12 |
| dbSNP | 26154 |
| Diseases | ABCA12 |
| SADR | 26154 |
| HugeNav | 26154 |
| wikipedia | ABCA12 |
| ABCA12 | |
| gopubmed | ABCA12 |
| EVS | ABCA12 |
| HEFalMp | ABCA12 |
| MyGene2 | ABCA12 |
| 23andMe | ABCA12 |
| UniProt | Q86UK0 |
| Ensembl | ENSG00000144452 |
| OMIM | 607800 |
| # SNPs | 26 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10210200 | 0 | 215,064,402 | |
| rs1064793695 | 0 | 214,932,640 | |
| rs1085308032 | 0 | 214,947,489 | |
| rs114863111 | 0 | 214,987,734 | |
| rs11891778 | 0 | 215,045,850 | |
| rs137853289 | 0 | 214,953,891 | |
| rs199503269 | 0 | 214,937,608 | |
| rs267606622 | 0 | 214,990,791 | |
| rs28940268 | 2 | 214,986,563 | |
| rs28940269 | 0 | 214,986,566 | |
| rs28940270 | 2 | 214,982,225 | |
| rs28940271 | 2 | 214,980,608 | |
| rs28940568 | 2 | 214,978,830 | |
| rs387906284 | 0 | 214,945,021 | |
| rs387906285 | 0 | 214,978,432 | |
| rs726070 | 1 | 214,948,607 | |
| rs755391236 | 0 | 214,997,733 | |
| rs7560008 | 0 | 215,011,442 | |
| rs756771290 | 0 | 215,007,788 | |
| rs757520757 | 0 | 215,019,784 | |
| rs761557390 | 0 | 214,966,945 | |
| rs762065937 | 0 | 215,064,204 | |
| rs763182554 | 0 | 215,011,969 | |
| rs763481375 | 0 | 215,011,631 | |
| rs767707248 | 0 | 215,064,205 | |
| rs886039296 | 0 | 215,018,130 |
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.
