Hs01263022_cn

• Gene Symbol: NDUFA4L2
• Assay Reference Genome Location: Chr.12:57235398 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	693	NP_064527.1
	XM_005269033.2	6	666	XP_005269090.1
	XM_011538573.2	5	1308	XP_011536875.1
	AF164796.1	4	438	AAF80760.1
	AK094275.1	8	1523
	AK129629.1	4	710
	BC011910.2	4	693	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	STAT6 STAT2 PTGES3 INHBE RNF41 SHMT2 ARHGAP9 DCTN2 SLC26A10 LOC101927583 PIP4K2C PAN2 NDUFA4L2 HSD17B6 MBD6 COQ10A INHBC SDR9C7 SLC39A5 NEMP1 SNORA105C MIR1228 GPR182 RBMS2 NXPH4 MIR616 CS KIF5A B4GALNT1 OS9 HBCBP SPRYD4 ARHGEF25 RDH16 NAB2 APOF SNORD59A GLS2 IL23A R3HDM2 NABP2 GLI1 MIP PRIM1 MARS ATP5B DDIT3 TAC3 ANKRD52 LRP1 SNORD59B ZBTB39 BAZ2A MYO1A LRP1-AS CNPY2 DTX3 MIR6758 STAC3 TIMELESS NACA
nsv519293	Chr.12:57189889 - 57243810 on Build GRCh38	Loss	MIR1228 NXPH4 STAC3 LRP1 SHMT2 NDUFA4L2
nsv952189	Chr.12:57127118 - 57245617 on Build GRCh38	Deletion	MIR1228 NXPH4 STAC3 LRP1-AS LRP1 SHMT2 NDUFA4L2
dgv96n21	Chr.12:57139199 - 57243810 on Build GRCh38	Loss	MIR1228 NXPH4 STAC3 LRP1-AS LRP1 SHMT2 NDUFA4L2

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