Hs02938872_cn

• Gene Symbol: BDH1
• Assay Reference Genome Location: Chr.3:197510197 on build GRCh38
• Cytoband: 3q29

Target Gene Details

• Entrez Gene ID: 622
• Gene Name: 3-hydroxybutyrate dehydrogenase, type 1
• Gene Aliases: BDH, SDR9C1
• Location: Chr.3:197509783-197573323 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BDH1	NM_004051.4	7	2980	NP_004042.1
	NM_203314.2	8	3132	NP_976059.1
	NM_203315.2	7	2916	NP_976060.1
	XM_005269352.3	7	2796	XP_005269409.1
	XM_005269355.4	3	2749	XP_005269412.1
	XM_011513067.2	6	4345	XP_011511369.1
	XM_017007007.1	7	4424	XP_016862496.1
	XM_017007008.1	8	5044	XP_016862497.1
	XM_017007009.1	9	3999	XP_016862498.1
	XM_017007010.1	8	3847	XP_016862499.1
	XM_017007011.1	10	4057	XP_016862500.1
	XM_017007012.1	9	3905	XP_016862501.1
	XM_017007014.1	4	4021	XP_016862503.1
	XM_017007015.1	5	2777	XP_016862504.1
	AK126701.1	4	3689

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv508982	Chr.3:197446173 - 197598047 on Build GRCh38	Insertion	BDH1 LOC100129516
nsv461136	Chr.3:197308114 - 197607658 on Build GRCh38	Gain	BDH1 LOC100129516
dgv5041n100	Chr.3:197327674 - 197627105 on Build GRCh38	Gain	BDH1 LOC100129516 LOC220729
dgv5040n100	Chr.3:197306737 - 197543615 on Build GRCh38	Gain	BDH1 LOC100129516
esv3599312	Chr.3:197486097 - 197562644 on Build GRCh38	Gain	BDH1 LOC100129516
nsv428433	Chr.3:197508059 - 197770997 on Build GRCh38	Gain+Loss	BDH1 MIR922 LOC107986175 RUBCN LOC220729 FYTTD1
dgv5042n100	Chr.3:197449848 - 197677483 on Build GRCh38	Gain	BDH1 LOC100129516 MIR922 LOC107986175 RUBCN LOC220729
esv2759214	Chr.3:197128182 - 197770997 on Build GRCh38	Gain+Loss	BDH1 LOC100129516 MIR922 LOC107986175 RUBCN MIR4797 DLG1 LOC220729 FYTTD1 DLG1-AS1
dgv5038n100	Chr.3:197134594 - 197659420 on Build GRCh38	Gain	BDH1 LOC100129516 LOC107986175 MIR4797 DLG1 LOC220729 DLG1-AS1
nsv593116	Chr.3:197183211 - 197617305 on Build GRCh38	Gain	BDH1 LOC100129516 MIR4797 DLG1 LOC220729 DLG1-AS1
esv3599309	Chr.3:197393955 - 197584204 on Build GRCh38	Gain	BDH1 LOC100129516

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

liver development
brain development
response to nutrient
response to toxic substance
response to estradiol
response to insulin
response to drug
response to starvation
response to ethanol
response to cadmium ion
ketone body biosynthetic process
ketone body catabolic process
response to corticosterone
oxidation-reduction process
response to growth hormone
adipose tissue development

Function(s)

3-hydroxybutyrate dehydrogenase activity
phospholipid binding