Hs03054064_cn

• Gene Symbol: HIBADH
• Assay Reference Genome Location: Chr.7:27525692 on build GRCh38
• Cytoband: 7p15.2

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

valine catabolic process
branched-chain amino acid catabolic process
oxidation-reduction process

Function(s)

phosphogluconate dehydrogenase (decarboxylating) activity
3-hydroxyisobutyrate dehydrogenase activity
NAD binding