Assay Details
Target Gene Details
Entrez Gene ID: | 9563 |
Gene Name: | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase |
Gene Aliases: |
CORTRD1, G6PDH, GDH |
Location: |
Chr.1:9234767-9271337 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
H6PD | NM_004285.3 | 1 | 134 | NP_004276.2 |
XM_006711052.3 | 1 | 171 | XP_006711115.1 | |
AJ012590.1 | 1 | 134 | CAA10071.1 | |
BC081559.1 | 1 | 164 | AAH81559.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832092 | Chr.1:9126509 - 9304543 on Build GRCh38 | Loss | MIR34A MIR34AHG SPSB1 LOC102724571 GPR157 H6PD |
nsv1143434 | Chr.1:9234741 - 9235141 on Build GRCh38 | Deletion | H6PD |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |