Variant Details for PRIM2
Basic Information Top
| Gene Symbol: | PRIM2 ( MGC75142,PRIM2A,p58 ) |
|---|---|
| Gene Full Name: | primase, DNA, polypeptide 2 (58kDa) |
| Band: | 6p11.2 |
| Quick Links | Entrez ID:5558; OMIM: 176636; Uniprot ID:PRI2_HUMAN; ENSEMBL ID: ENSG00000146143; HGNC ID: 9370 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 3 | 0 | 0 | 3 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002593 | 6 | 6p11.2 | 57228363 | 58080726 | 852363 | gain | external link | Pinto, 2010 |
| AutCNV0003919 | 6 | 6p11.2 | 57448271 | 57972720 | 524449 | gain | external link | Levy, 2011 |
| AutCNV0004253 | 6 | 6p11.2 | 57217336 | 58080726 | 863390 | gain | external link | Sanders, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 57563112 | T | A | Doan RN, 2016 | |||||
| 6 | 57914599 | - | A | Doan RN, 2016 | |||||
| 6 | 57914604 | AG | C | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||