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 Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
G6PC | NM_000151.3 | NP_000142.2 | ||
NM_001270397.1 | NP_001257326.1 | |||
AK303771.1 | ||||
AK313982.1 | ||||
BC130478.1 | ||||
BC136369.1 | ||||
U01120.1 | 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 | LINC00671 G6PC |
nsv457742 | Chr.17:42907778 - 43019464 on Build GRCh38 | Loss | G6PC RUNDC1 PTGES3L-AARSD1 PTGES3L RPL27 VAT1 IFI35 AARSD1 |
nsv483009 | Chr.17:42829470 - 43006887 on Build GRCh38 | Gain | AOC2 LINC00671 AOC4P G6PC RUNDC1 PTGES3L-AARSD1 PTGES3L RPL27 IFI35 PSME3 AARSD1 AOC3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |