Assay Details
Target Gene Details
Entrez Gene ID: | 11112 |
Gene Name: | 3-hydroxyisobutyrate dehydrogenase |
Gene Aliases: |
NS5ATP1 |
Location: |
Chr.7:27525440-27663001 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HIBADH | NM_152740.3 | NP_689953.1 | ||
XM_017011719.1 | XP_016867208.1 | |||
AB050000.1 | ||||
AF529362.1 | AAQ09596.1 | |||
AK025558.1 | ||||
AK311650.1 | ||||
AK316605.1 | ||||
BC032324.1 | AAH32324.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830930 | Chr.7:27356219 - 27547736 on Build GRCh38 | Loss | HIBADH |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |