Hs04670587_cn

• Gene Symbol: MDH1B
• Assay Reference Genome Location: Chr.2:206753673 on build GRCh38
• Cytoband: 2q33.3

Target Gene Details

• Entrez Gene ID: 130752
• Gene Name: malate dehydrogenase 1B
• Gene Aliases: RP11-95H11
• Location: Chr.2:206737763-206765549 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MDH1B	NM_001039845.2			NP_001034934.1
	NM_001282940.1			NP_001269869.1
	NR_104261.1
	XM_005246315.4			XP_005246372.1
	XM_005246316.4			XP_005246373.1
	XM_011510628.2			XP_011508930.1
	XM_017003373.1			XP_016858862.1
	XM_017003374.1			XP_016858863.1
	AK058070.1
	AK292378.1
	AK292386.1
	AK302250.1
	AK308257.1
	AK309144.1
	BC033509.1			AAH33509.1
	BC088356.1			AAH88356.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1011347	Chr.2:206384007 - 207085773 on Build GRCh38	Gain	MIR3130-1 CPO DYTN LOC200726 MDH1B KLF7 ADAM23 MIR3130-2 FASTKD2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
tricarboxylic acid cycle
malate metabolic process

Function(s)

malate dehydrogenase activity
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor