Assay Details
Target Gene Details
Entrez Gene ID: | 26227 |
Gene Name: | phosphoglycerate dehydrogenase |
Gene Aliases: |
3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD, SERA |
Location: |
Chr.1:119711737-119744226 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHGDH | NM_006623.3 | NP_006614.2 | ||
XM_011541226.1 | XP_011539528.1 | |||
XM_011541227.2 | XP_011539529.1 | |||
XM_011541228.1 | XP_011539530.1 | |||
XM_011541231.2 | XP_011539533.1 | |||
AF171236.1 | AAD51414.1 | |||
AF171237.1 | AAD51415.1 | |||
AK093306.1 | ||||
AK309662.1 | ||||
AK310132.1 | ||||
AK315360.1 | ||||
BC000303.2 | AAH00303.1 | |||
BC001349.2 | AAH01349.1 | |||
BC011262.1 | AAH11262.1 | |||
CR456795.1 | CAG33076.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831215 | Chr.1:119723826 - 119905846 on Build GRCh38 | Gain | ADAM30 NBPF7 HMGCS2 REG4 PHGDH |
nsv524681 | Chr.1:118890895 - 121570001 on Build GRCh38 | Gain | ADAM30 NBPF7 LOC101929796 WARS2-IT1 HSD3BP4 REG4 LOC100996720 TBX15 LOC100996318 HMGCS2 LOC101929147 RNVU1-4 EMBP1 NBPF8 NOTCH2 HAO2-IT1 LOC105378933 LOC100996724 SRGAP2-AS1 LOC105369199 HAO2 HIST2H2BA LOC100996721 LINC00622 SEC22B WARS2 HSD3B1 PPIAL4A HSD3B2 ZNF697 SRGAP2C RNVU1-19 FAM72B NBPF26 PHGDH FCGR1B LOC101929798 LINC00623 PFN1P2 |
nsv428201 | Chr.1:119724690 - 120154589 on Build GRCh38 | Gain | ADAM30 NBPF7 HMGCS2 REG4 PHGDH SEC22B NOTCH2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |