Hs02651318_cn

• Gene Symbol: MDH1B
• Assay Reference Genome Location: Chr.2:206738323 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 Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MDH1B	NM_001039845.2	12	1995	NP_001034934.1
	NM_001282940.1	12	1992	NP_001269869.1
	NR_104261.1	10	1634
	XM_005246315.4	11	1816	XP_005246372.1
	XM_011510628.2	12	1981	XP_011508930.1
	XM_017003373.1	11	1661	XP_016858862.1
	XM_017003374.1	11	1648	XP_016858863.1
	AK058070.1
	AK292378.1
	AK292386.1	12	1729
	AK302250.1
	AK308257.1
	BC033509.1	10	1379	AAH33509.1
	BC088356.1			AAH88356.1
	BF979825.1	1	506

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 KLF7 FASTKD2 MIR3130-2 LOC200726 MDH1B DYTN ADAM23

More Information

• Set Membership: Intragenic, 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