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 | 2036 | NP_000142.2 |
NM_001270397.1 | 5 | 1959 | NP_001257326.1 | |
BC130478.1 | 5 | 2002 | ||
BC136369.1 | 5 | 2002 | ||
U01120.1 | 5 | 2035 | 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 VAT1 G6PC AARSD1 PTGES3L-AARSD1 PTGES3L RPL27 IFI35 |
nsv483009 | Chr.17:42829470 - 43006887 on Build GRCh38 | Gain | AOC4P RUNDC1 G6PC PSME3 AOC2 LINC00671 AARSD1 AOC3 PTGES3L-AARSD1 PTGES3L RPL27 IFI35 |
More Information
Additional Information:
For this assay, SNP(s) [rs72826982] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |