Assay Details
Target Gene Details
Entrez Gene ID: | 2538 |
Gene Name: | glucose-6-phosphatase catalytic subunit |
Gene Aliases: |
G6PC1, G6PT, G6Pase, GSD1, GSD1a |
Location: |
Chr.17:42900797-42914433 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
G6PC | NM_000151.3 | 5 | 1608 | NP_000142.2 |
NM_001270397.1 | 5 | 1531 | NP_001257326.1 | |
BC130478.1 | 5 | 1574 | ||
BC136369.1 | 5 | 1574 | ||
U01120.1 | 5 | 1607 | AAA16222.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2763170 | Chr.17:42896968 - 42943614 on Build GRCh38 | Loss | G6PC LINC00671 |
nsv457742 | Chr.17:42907778 - 43019464 on Build GRCh38 | Loss | RUNDC1 IFI35 RPL27 G6PC PTGES3L-AARSD1 PTGES3L AARSD1 VAT1 |
nsv483009 | Chr.17:42829470 - 43006887 on Build GRCh38 | Gain | RUNDC1 IFI35 AOC3 RPL27 G6PC AOC2 LINC00671 PTGES3L-AARSD1 PTGES3L PSME3 AOC4P AARSD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |