Hs01109449_cn

• Gene Symbol: IVD
• Assay Reference Genome Location: Chr.15:40418467 on build GRCh38
• Cytoband: 15q15.1

Target Gene Details

• Entrez Gene ID: 3712
• Gene Name: isovaleryl-CoA dehydrogenase
• Gene Aliases: ACAD2
• Location: Chr.15:40405485-40435948 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IVD	NM_001159508.1	11	1729	NP_001152980.1
	NM_002225.3	12	1819	NP_002216.2
	XM_005254350.2			XP_005254407.1
	XM_006720492.2			XP_006720555.1
	XM_006720495.2			XP_006720558.1
	XM_017022149.1			XP_016877638.1
	XM_017022150.1			XP_016877639.1
	XM_017022151.1			XP_016877640.1
	XM_017022152.1	12	1600	XP_016877641.1
	XM_017022153.1			XP_016877642.1
	XM_017022154.1	12	1741	XP_016877643.1
	XM_017022155.1			XP_016877644.1
	XM_017022156.1	12	1886	XP_016877645.1
	XM_017022157.1			XP_016877646.1
	AF070531.1	4	853
	AK022777.1	1	880
	AK092168.1
	AK122922.1	11	1419
	BC017202.2	12	1487	AAH17202.1
	M34192.1	12	1491	AAA52711.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv510660	Chr.15:40260705 - 40429684 on Build GRCh38	Deletion	C15orf52 INAFM2 DISP2 ANKRD63 KNSTRN PHGR1 PAK6 PLCB2 IVD BUB1B-PAK6
esv34145	Chr.15:40257416 - 40597626 on Build GRCh38	Loss	KNL1 C15orf57 ANKRD63 PHGR1 PAK6 PLCB2 MRPL42P5 CHST14 C15orf52 INAFM2 DISP2 KNSTRN RPUSD2 BAHD1 IVD BUB1B-PAK6

More Information

Additional Information:

For this assay, SNP(s) [rs77680513] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

leucine catabolic process
branched-chain amino acid catabolic process
fatty acid beta-oxidation using acyl-CoA dehydrogenase
lipid homeostasis

Function(s)

fatty-acyl-CoA binding
isovaleryl-CoA dehydrogenase activity
electron carrier activity
flavin adenine dinucleotide binding
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor