Hs00734005_cn

• Gene Symbol: CYB5R2
• Assay Reference Genome Location: Chr.11:7665315 on build GRCh38
• Cytoband: 11p15.4

Target Gene Details

• Entrez Gene ID: 51700
• Gene Name: cytochrome b5 reductase 2
• Gene Aliases: B5R.2
• Location: Chr.11:7665095-7678568 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYB5R2	NM_001302826.1	9	1482	NP_001289755.1
	NM_001302827.1	8	952	NP_001289756.1
	NM_016229.4	9	1136	NP_057313.2
	NR_126508.1	10	1249
	XM_005252975.4	9	1088	XP_005253032.1
	XM_006718251.2	9	1113	XP_006718314.1
	XM_011520184.2	9	1303	XP_011518486.1
	XM_011520185.2	12	1579	XP_011518487.1
	XM_017017920.1	11	1396	XP_016873409.1
	XM_017017921.1	10	1298	XP_016873410.1
	XM_017017922.1	8	930	XP_016873411.1
	AA814725.1	1	211
	AB209000.1	3	7253	BAD92237.1
	AF169802.1	9	1039	AAF04811.1
	AI342011.1	1	222
	AK290102.1	9	1455
	AL133582.1	8	872	CAB63726.1
	BF061336.1	1	232
	BM968347.1	1	229
	HY211860.1	1	206

Target Gene Details

• Entrez Gene ID: 8495
• Gene Name: PPFIA binding protein 2
• Gene Aliases: Cclp1
• Location: Chr.11:7513765-7667329 on Build GRCh38
• Assay Gene Location: Within Intron 36

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPFIBP2	XM_011520415.2			XP_011518717.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3625293	Chr.11:7515685 - 7685956 on Build GRCh38	Gain	OVCH2 CYB5R2 PPFIBP2
esv3891925	Chr.11:7596802 - 7700323 on Build GRCh38	Gain	OVCH2 CYB5R2 PPFIBP2
esv29577	Chr.11:7664688 - 7665678 on Build GRCh38	Loss	CYB5R2 PPFIBP2
esv3625296	Chr.11:7635550 - 7688660 on Build GRCh38	Gain	OVCH2 CYB5R2 PPFIBP2
dgv58n21	Chr.11:7652157 - 7688219 on Build GRCh38	Loss	OVCH2 CYB5R2 PPFIBP2
nsv1035575	Chr.11:7648656 - 7744807 on Build GRCh38	Gain	OVCH2 CYB5R2 PPFIBP2
nsv553407	Chr.11:7664234 - 7665353 on Build GRCh38	Loss	CYB5R2 PPFIBP2

More Information

Additional Information:

For this assay, SNP(s) [rs76915129] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

bicarbonate transport
sterol biosynthetic process
oxidation-reduction process

Function(s)

cytochrome-b5 reductase activity, acting on NAD(P)H
protein binding
FAD binding
molecular_function