Hs07112612_cn

• Gene Symbol: L2HGDH
• Assay Reference Genome Location: Chr.14:50263175 on build GRCh38
• Cytoband: 14q21.3

Target Gene Details

• Entrez Gene ID: 79944
• Gene Name: L-2-hydroxyglutarate dehydrogenase
• Gene Aliases: C14orf160, L2HGA
• Location: Chr.14:50242434-50312235 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
L2HGDH	NM_024884.2			NP_079160.1
	XM_005268075.4			XP_005268132.1
	XM_011537166.2			XP_011535468.1
	XM_011537167.2			XP_011535469.1
	XM_011537168.2			XP_011535470.1
	XM_017021655.1			XP_016877144.1
	XM_017021656.1			XP_016877145.1
	XM_017021657.1			XP_016877146.1
	AK022680.1			BAB14174.1
	AK292627.1
	AY757363.1			AAV52330.1
	BC006117.1			AAH06117.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3634475	Chr.14:50257216 - 50265757 on Build GRCh38	Loss	L2HGDH
nsv564835	Chr.14:50024482 - 50439753 on Build GRCh38	Gain	MIR4504 MAP4K5 ATP5S CDKL1 VCPKMT L2HGDH SOS2 LINC01599
esv28926	Chr.14:49426970 - 50475809 on Build GRCh38	Gain+Loss	LOC100506446 MAP4K5 ATP5S NEMF KLHDC1 RN7SL2 LRR1 LINC01588 ARF6 VCPKMT SOS2 RPL36AL POLE2 RN7SL1 MIR4504 LOC100288910 MIR6076 MGAT2 KLHDC2 CDKL1 L2HGDH DNAAF2 RPS29 LINC01599

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

2-oxoglutarate metabolic process
cellular protein metabolic process
oxidation-reduction process

Function(s)

2-hydroxyglutarate dehydrogenase activity