Hs07209591_cn

• Gene Symbol: IDH3B
• Assay Reference Genome Location: Chr.20:2661543 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 3420
• Gene Name: isocitrate dehydrogenase 3 (NAD(+)) beta
• Gene Aliases: RP46
• Location: Chr.20:2658390-2664223 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IDH3B	NM_001258384.2			NP_001245313.1
	NM_006899.4			NP_008830.2
	NM_174855.3			NP_777280.1
	NR_136344.1
	XM_005260716.1			XP_005260773.1
	AK001905.1			BAA91971.1
	AK300485.1
	AK309488.1
	AK315641.1
	BC001960.1			AAH01960.1
	BG745042.1
	BP872064.1
	BX647393.1
	HY131986.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1057464	Chr.20:2650623 - 2989686 on Build GRCh38	Gain	SNORD56 TMEM239 MIR1292 SNORD110 SNORD57 SNORA51 CPXM1 EBF4 C20orf141 PTPRA SNORD86 NOP56 VPS16 IDH3B PCED1A
nsv470535	Chr.20:1948896 - 2780594 on Build GRCh38	Gain	SNORD56 TGM3 MIR1292 SNORD110 TMC2 SNORD57 SNORA51 LOC388780 SNORD119 ZNF343 LOC727993 PDYN EBF4 TGM6 SNORD86 STK35 NOP56 SNRPB IDH3B
esv3644998	Chr.20:2148722 - 2690694 on Build GRCh38	Gain	SNORD56 TGM3 MIR1292 SNORD110 TMC2 SNORD57 SNORA51 LOC388780 SNORD119 ZNF343 TGM6 SNORD86 NOP56 SNRPB IDH3B
nsv458852	Chr.20:2657933 - 2704278 on Build GRCh38	Loss	EBF4 NOP56 IDH3B

More Information

Additional Information:

For this assay, SNP(s) [rs200279218] 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 -

dehydrogenase

Gene Ontology Categories:

Process(es)

tricarboxylic acid cycle
isocitrate metabolic process
2-oxoglutarate metabolic process
NADH metabolic process

Function(s)

magnesium ion binding
isocitrate dehydrogenase (NAD+) activity
electron carrier activity
NAD binding