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 Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HIBADH | NM_152740.3 | 8 | 1746 | NP_689953.1 |
XM_017011719.1 | 9 | 1776 | XP_016867208.1 | |
AB050000.1 | 8 | 1620 | ||
CA449571.1 | 1 | 267 |
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 Exonic DGV Variation |