Hs00795140_cn

• Gene Symbol: NDUFA4L2
• Assay Reference Genome Location: Chr.12:57235587 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 4 - Exon 5

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

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