Assay Details
Target Gene Details
Entrez Gene ID: | 192111 |
Gene Name: | PGAM family member 5, mitochondrial serine/threonine protein phosphatase |
Gene Aliases: |
BXLBV68 |
Location: |
Chr.12:132710807-132722737 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGAM5 | NM_001170543.1 | 6 | 1234 | NP_001164014.1 |
NM_001170544.1 | 6 | 1231 | NP_001164015.1 | |
AK097688.1 | 6 | 1581 | ||
CA307621.1 | 1 | 212 | ||
EU249757.1 | 6 | 1222 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047500 | Chr.12:132666737 - 132763400 on Build GRCh38 | Gain | ANKLE2 PGAM5 POLE PXMP2 |
nsv1037074 | Chr.12:132613063 - 132801953 on Build GRCh38 | Gain | ANKLE2 P2RX2 GOLGA3 PGAM5 POLE PXMP2 |
nsv561121 | Chr.12:132717747 - 132729651 on Build GRCh38 | Gain | ANKLE2 PGAM5 |
esv3631311 | Chr.12:132713141 - 132737944 on Build GRCh38 | Gain | ANKLE2 PGAM5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |