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 1 |
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 | G6PC LINC00671 |
nsv483009 | Chr.17:42829470 - 43006887 on Build GRCh38 | Gain | AOC2 PTGES3L G6PC AOC4P AARSD1 AOC3 IFI35 PTGES3L-AARSD1 LINC00671 RUNDC1 PSME3 RPL27 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |