Assay Details
Target Gene Details
Entrez Gene ID: | 5224 |
Gene Name: | phosphoglycerate mutase 2 |
Gene Aliases: |
GSD10, PGAM-M, PGAMM |
Location: |
Chr.7:44062727-44065587 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGAM2 | NM_000290.3 | 1 | 140 | NP_000281.2 |
BC001904.1 | 1 | 148 | AAH01904.1 | |
BC073741.1 | 1 | 136 | AAH73741.1 | |
CT002473.1 | 1 | 140 | ||
M18172.1 | 1 | 117 | AAA60072.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv8082 | Chr.7:43956156 - 44207229 on Build GRCh38 | Gain | PGAM2 POLR2J4 SPDYE1 MYL7 POLD2 YKT6 POLM MIR6838 GCK LINC00957 RASA4CP MIR6837 AEBP1 MIR4649 DBNL |
nsv428165 | Chr.7:43855828 - 44172960 on Build GRCh38 | Gain | PGAM2 POLR2J4 SPDYE1 MYL7 POLD2 URGCP-MRPS24 POLM MIR6838 LOC107986791 GCK MRPS24 UBE2D4 URGCP LINC00957 RASA4CP MIR6837 AEBP1 MIR4649 DBNL |
nsv470210 | Chr.7:44045936 - 44139229 on Build GRCh38 | Loss | MIR6838 PGAM2 MYL7 POLD2 MIR6837 AEBP1 MIR4649 DBNL POLM |
nsv830980 | Chr.7:43865998 - 44078539 on Build GRCh38 | Loss | PGAM2 POLR2J4 SPDYE1 URGCP-MRPS24 POLM MIR6838 LOC107986791 MRPS24 UBE2D4 URGCP LINC00957 RASA4CP MIR6837 DBNL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |