Hs01675676_cn

• Gene Symbol: NDUFA4L2
• Assay Reference Genome Location: Chr.12:57235794 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: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFA4L2	NM_020142.3			NP_064527.1
	XM_005269033.2			XP_005269090.1
	XM_011538573.2			XP_011536875.1
	AF164796.1			AAF80760.1
	AK094275.1
	AK129629.1
	BC011910.2			AAH11910.1
	CR457176.1			CAG33457.1

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

More Information

• Set Membership: Intragenic, Non-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