Entrez Gene ID | 5558 |
---|---|
Official Gene Symbol | PRIM2 (GeneCards) |
Full name | DNA primase subunit 2 |
Location | 6p11.2 |
Other ids | Vega : OTTHUMG00000016190 MIM : 176636 HGNC : HGNC:9370 Ensembl : ENSG00000146143 |
Other names | p58, PRIM2A |
Summary | This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] |
Found 17 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
9044 | 5558 | PRIM2 | 6 | 57966478 | 57966478 | Asymptomatic | HiSeq 2000 |
9163 | 5558 | PRIM2 | 6 | 57768077 | 57768077 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9211 | 5558 | PRIM2 | 6 | 58217668 | 58217668 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9247 | 5558 | PRIM2 | 6 | 57774462 | 57774462 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9256 | 5558 | PRIM2 | 6 | 57753894 | 57753894 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9282 | 5558 | PRIM2 | 6 | 57750165 | 57750165 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9340 | 5558 | PRIM2 | 6 | 57283202 | 57283202 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9424 | 5558 | PRIM2 | 6 | 57970782 | 57970782 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9524 | 5558 | PRIM2 | 6 | 57687096 | 57687096 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9566 | 5558 | PRIM2 | 6 | 57620903 | 57620903 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9741 | 5558 | PRIM2 | 6 | 57194101 | 57194101 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9752 | 5558 | PRIM2 | 6 | 57564440 | 57564440 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
9893 | 5558 | PRIM2 | 6 | 57720783 | 57720783 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
10125 | 5558 | PRIM2 | 6 | 57535719 | 57535719 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
10220 | 5558 | PRIM2 | 6 | 58065861 | 58065861 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
26253 | 5558 | PRIM2 | 6 | 58013905 | 58013905 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
26268 | 5558 | PRIM2 | 6 | 57776771 | 57776771 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |