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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGAM2 | NM_000290.3 | NP_000281.2 | ||
BC001904.1 | AAH01904.1 | |||
BC073741.1 | AAH73741.1 | |||
M18172.1 | 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 | AEBP1 POLD2 LINC00957 MYL7 POLR2J4 DBNL PGAM2 MIR6838 POLM SPDYE1 MIR6837 RASA4CP YKT6 MIR4649 GCK |
nsv428165 | Chr.7:43855828 - 44172960 on Build GRCh38 | Gain | AEBP1 POLD2 LINC00957 MYL7 POLR2J4 MRPS24 URGCP DBNL PGAM2 MIR6838 UBE2D4 POLM LOC107986791 SPDYE1 MIR6837 URGCP-MRPS24 RASA4CP MIR4649 GCK |
nsv470210 | Chr.7:44045936 - 44139229 on Build GRCh38 | Loss | MIR6838 POLM AEBP1 POLD2 MIR6837 MYL7 MIR4649 DBNL PGAM2 |
nsv830980 | Chr.7:43865998 - 44078539 on Build GRCh38 | Loss | LINC00957 POLR2J4 MRPS24 URGCP DBNL PGAM2 MIR6838 UBE2D4 POLM LOC107986791 SPDYE1 MIR6837 URGCP-MRPS24 RASA4CP |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |