Assay Details
Target Gene Details
Entrez Gene ID: | 5226 |
Gene Name: | phosphogluconate dehydrogenase |
Gene Aliases: |
6PGD |
Location: |
Chr.1:10398992-10420511 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGD | NM_001304451.1 | 12 | 1649 | NP_001291380.1 |
NM_001304452.1 | 13 | 1794 | NP_001291381.1 | |
NM_002631.3 | 13 | 1715 | NP_002622.2 | |
AK290404.1 | 13 | 1640 | ||
AK296889.1 | 14 | 1543 | ||
AK298830.1 | 13 | 1794 | ||
AK303898.1 | ||||
BC000368.2 | 13 | 1626 | AAH00368.1 | |
U30255.1 | AAA75302.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2764192 | Chr.1:10323676 - 10534129 on Build GRCh38 | Gain | APITD1-CORT KIF1B PEX14 CORT DFFA APITD1 PGD |
esv2758920 | Chr.1:10178012 - 10522497 on Build GRCh38 | Gain+Loss | APITD1-CORT KIF1B PEX14 CORT MIR1273D UBE4B DFFA APITD1 PGD |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |