Hs02845701_cn

• Gene Symbol: VPS36
• Assay Reference Genome Location: Chr.13:52415624 on build GRCh38
• Cytoband: 13q14.3

Target Gene Details

• Entrez Gene ID: 51028
• Gene Name: vacuolar protein sorting 36 homolog
• Gene Aliases: C13orf9, CGI-145, EAP45
• Location: Chr.13:52412602-52450678 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS36	NM_001282168.1	14	1424	NP_001269097.1
	NM_001282169.1	14	1585	NP_001269098.1
	NM_016075.3	14	1451	NP_057159.2
	AB208956.1	8	4125	BAD92193.1
	AF151903.1	14	1372	AAD34140.1
	AK023182.1	12	1168	BAB14451.1
	AK289740.1	14	1394
	BC037279.1	14	1400	AAH37279.1
	BC050439.1	14	1374	AAH50439.1
	BX647847.1	14	1392
	CR933653.1	14	1539	CAI45953.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428288	Chr.13:52154235 - 52493997 on Build GRCh38	Loss	TPTE2P3 THSD1 TPTE2P2 LOC103191607 VPS36 NEK3 MRPS31P5 CKAP2

More Information

Additional Information:

For this assay, SNP(s) [rs115336219] 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 -

membrane traffic protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
autophagy
endosomal transport
multivesicular body assembly
protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway

Function(s)

protein binding
protein C-terminus binding
phosphatidylinositol-3-phosphate binding
ubiquitin binding