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 | 222 | NP_000281.2 |
BC001904.1 | 1 | 230 | AAH01904.1 | |
BC073741.1 | 1 | 218 | AAH73741.1 | |
CT002473.1 | 1 | 222 | ||
M18172.1 | 1 | 199 | 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 |
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nsv428165 | Chr.7:43855828 - 44172960 on Build GRCh38 | Gain |
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nsv470210 | Chr.7:44045936 - 44139229 on Build GRCh38 | Loss |
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nsv830980 | Chr.7:43865998 - 44078539 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)