Hs04081676_cn

• Gene Symbol: ACO2
• Assay Reference Genome Location: Chr.22:41469598 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 50
• Gene Name: aconitase 2
• Gene Aliases: ACONM, HEL-S-284, ICRD, OCA8, OPA9
• Location: Chr.22:41469125-41528989 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACO2	NM_001098.2			NP_001089.1
	XM_017028812.1			XP_016884301.1
	AK293562.1
	AK296260.1
	AK297213.1
	AK301321.1
	AK302691.1
	AK314845.1
	BC014092.2			AAH14092.1
	BC026196.2			AAH26196.1
	CR456365.1			CAG30251.1
	CR536568.1			CAG38805.1
	GQ472196.1
	U80040.1			AAB38416.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516925	Chr.22:41252498 - 41585953 on Build GRCh38	Loss	LOC105373044 TEF POLR3H LOC100996598 PMM1 RANGAP1 TOB2 ZC3H7B ACO2 PHF5A CSDC2 MIR6889
nsv834208	Chr.22:41363612 - 41554028 on Build GRCh38	Loss	LOC105373044 TEF POLR3H LOC100996598 TOB2 ACO2 PHF5A
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	TEF LOC100996598 SNORD140 C22orf46 RANGAP1 TOB2 EP300 ZC3H7B ACO2 L3MBTL2 MEI1 CHADL PHF5A XRCC6 CSDC2 MIR6889 DESI1 LOC105373044 EP300-AS1 POLR3H PMM1 MIR1281 SNU13

More Information

Additional Information:

For this assay, SNP(s) [rs77505591] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

hydratase

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
tricarboxylic acid cycle
citrate metabolic process
isocitrate metabolic process

Function(s)

aconitate hydratase activity
iron ion binding
3 iron, 4 sulfur cluster binding
4 iron, 4 sulfur cluster binding