Hs00583061_cn

• Gene Symbol: NDUFA4L2
• Assay Reference Genome Location: Chr.12:57235229 on build GRCh38
• Cytoband: 12q13.3

Target Gene Details

• Entrez Gene ID: 56901
• Gene Name: NDUFA4, mitochondrial complex associated like 2
• Gene Aliases: NUOMS
• Location: Chr.12:57234903-57240762 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFA4L2	NM_020142.3	4	862	NP_064527.1
	XM_005269033.2	6	835	XP_005269090.1
	XM_011538573.2	5	1477	XP_011536875.1
	AF164796.1	4	607	AAF80760.1
	AK094275.1	8	1692
	AK129629.1	4	879
	BC011910.2	4	862	AAH11910.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv482992	Chr.12:56206217 - 57706217 on Build GRCh38	Gain+Loss	NACA SLC39A5 CNPY2 INHBE PIP4K2C DCTN2 NABP2 SNORD59A ATP5B RNF41 SHMT2 SDR9C7 GLI1 SNORA105C APOF PAN2 B4GALNT1 PTGES3 INHBC SPRYD4 ARHGEF25 SLC26A10 R3HDM2 GLS2 MBD6 STAT2 STAC3 RBMS2 COQ10A NXPH4 OS9 LRP1 MIP MIR6758 NAB2 LOC101927583 NEMP1 HSD17B6 HBCBP SNORD59B LRP1-AS CS ARHGAP9 NDUFA4L2 BAZ2A RDH16 IL23A PRIM1 TAC3 MYO1A DDIT3 MIR1228 DTX3 TIMELESS STAT6 GPR182 MIR616 MARS ZBTB39 KIF5A ANKRD52
nsv519293	Chr.12:57189889 - 57243810 on Build GRCh38	Loss	NDUFA4L2 SHMT2 MIR1228 STAC3 NXPH4 LRP1
nsv952189	Chr.12:57127118 - 57245617 on Build GRCh38	Deletion	NDUFA4L2 SHMT2 MIR1228 STAC3 NXPH4 LRP1-AS LRP1
dgv96n21	Chr.12:57139199 - 57243810 on Build GRCh38	Loss	NDUFA4L2 SHMT2 MIR1228 STAC3 NXPH4 LRP1-AS LRP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

oxidation-reduction process
hydrogen ion transmembrane transport

Function(s)

cytochrome-c oxidase activity
NADH dehydrogenase (ubiquinone) activity