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 | 4031 | NP_000142.2 |
NM_001270397.1 | 5 | 3954 | NP_001257326.1 | |
AW614228.1 | 1 | 139 |
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 | LINC00671 G6PC |
nsv457742 | Chr.17:42907778 - 43019464 on Build GRCh38 | Loss | RPL27 AARSD1 PTGES3L-AARSD1 G6PC VAT1 PTGES3L RUNDC1 IFI35 |
nsv483009 | Chr.17:42829470 - 43006887 on Build GRCh38 | Gain | RPL27 AARSD1 PSME3 PTGES3L-AARSD1 AOC4P LINC00671 G6PC AOC3 PTGES3L RUNDC1 IFI35 AOC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |