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 Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
H6PD | NM_001282587.1 | NP_001269516.1 | ||
NM_004285.3 | NP_004276.2 | |||
XM_005263540.4 | XP_005263597.1 | |||
XM_006711052.3 | XP_006711115.1 | |||
XM_017002865.1 | XP_016858354.1 | |||
XM_017002866.1 | XP_016858355.1 | |||
AJ012590.1 | CAA10071.1 | |||
BC081559.1 | AAH81559.1 | |||
CR749282.1 | CAH18137.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv40e59 | Chr.1:9257906 - 9261004 on Build GRCh38 | Duplication | H6PD |
dgv2e55 | Chr.1:9255788 - 9344634 on Build GRCh38 | Gain | H6PD SPSB1 |
nsv545350 | Chr.1:9258342 - 9306793 on Build GRCh38 | Gain | H6PD SPSB1 |
nsv1139468 | Chr.1:9259141 - 9260941 on Build GRCh38 | Duplication | H6PD |
nsv1128586 | Chr.1:9258241 - 9260741 on Build GRCh38 | Duplication | H6PD |
dgv97n54 | Chr.1:9249687 - 9352728 on Build GRCh38 | Gain | H6PD SPSB1 |
dgv12e212 | Chr.1:9243684 - 9344908 on Build GRCh38 | Gain | H6PD SPSB1 |
esv2763409 | Chr.1:9247978 - 9344958 on Build GRCh38 | Gain | H6PD SPSB1 |
esv3585168 | Chr.1:9260085 - 9343720 on Build GRCh38 | Gain | H6PD SPSB1 |
dgv16n100 | Chr.1:9237601 - 9351410 on Build GRCh38 | Gain | H6PD SPSB1 |
nsv1075364 | Chr.1:9258040 - 9260741 on Build GRCh38 | Duplication | H6PD |
nsv832092 | Chr.1:9126509 - 9304543 on Build GRCh38 | Loss | H6PD MIR34AHG MIR34A GPR157 LOC102724571 SPSB1 |
esv23318 | Chr.1:9257747 - 9261167 on Build GRCh38 | Loss | H6PD |
More Information
Additional Information:
For this assay, SNP(s) [rs184344364] 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 Intronic Non-exonic DGV Variation |