Entrez Gene ID | 154664 |
---|---|
Official Gene Symbol | ABCA13 (GeneCards) |
Full name | ATP binding cassette subfamily A member 13 |
Location | 7p12.3 |
Other ids | Vega : OTTHUMG00000155840 MIM : 607807 HGNC : HGNC:14638 Ensembl : ENSG00000179869 |
Other names | None |
Summary | In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] |
Found 17 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
863 | 154664 | ABCA13 | 7 | 48319425 | 48319425 | Human Skin Fibroblasts | HiSeq 2500 |
1003 | 154664 | ABCA13 | 7 | 48316137 | 48316137 | Human Skin Fibroblasts | HiSeq 2500 |
10358 | 154664 | ABCA13 | 7 | 48555315 | 48555315 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
10378 | 154664 | ABCA13 | 7 | 48588710 | 48588710 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
10486 | 154664 | ABCA13 | 7 | 48790125 | 48790125 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
10660 | 154664 | ABCA13 | 7 | 48777216 | 48777216 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
10771 | 154664 | ABCA13 | 7 | 48332510 | 48332510 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
10876 | 154664 | ABCA13 | 7 | 48648073 | 48648073 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
10895 | 154664 | ABCA13 | 7 | 48557362 | 48557362 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
11124 | 154664 | ABCA13 | 7 | 48325999 | 48325999 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
11497 | 154664 | ABCA13 | 7 | 48558664 | 48558664 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
11575 | 154664 | ABCA13 | 7 | 48293036 | 48293036 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
23221 | 154664 | ABCA13 | 7 | 48313168 | 48313168 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
23245 | 154664 | ABCA13 | 7 | 48552348 | 48552348 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
23284 | 154664 | ABCA13 | 7 | 48504184 | 48504184 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
26395 | 154664 | ABCA13 | 7 | 48647183 | 48647183 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
26449 | 154664 | ABCA13 | 7 | 48743313 | 48743313 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |