Product Details

Assay Reference Genome Location: Chr.6:161348878 on build GRCh38
Cytoband: 6q26
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

For this assay, SNP(s) [rs77926621] 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.

Target Gene Details

Entrez Gene ID: 5071
Gene Symbol: PARK2
Gene Name: parkin RBR E3 ubiquitin protein ligase
Gene Aliases: AR-JP, LPRS2, PDJ, PRKN
Location: Chr.6:161347417-162727802 on build GRCh38
Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
PARK2	NM_004562.2	12	2753	NP_004553.2
	NM_013987.2	11	2669	NP_054642.2
	NM_013988.2	9	2306	NP_054643.2
	XM_011535863.1	12	2750	XP_011534165.1
	XM_017010908.1	12	3667	XP_016866397.1
	XM_017010909.1	11	2547	XP_016866398.1
	AB009973.1	12	2720	BAA25751.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830854	Chr6:161318894 - 161506483 on Build GRCh38	Gain	PARK2 LOC105378098
nsv1029727	Chr6:161186648 - 161393263 on Build GRCh38	Gain	PARK2 AGPAT4
nsv1031234	Chr6:161255736 - 161829694 on Build GRCh38	Gain	PARK2 LOC105378098 AGPAT4
esv3576244	Chr6:161272053 - 161395540 on Build GRCh38	Gain	PARK2 AGPAT4
nsv1026543	Chr6:160306836 - 161585804 on Build GRCh38	Gain	AGPAT4-IT1 PARK2 LOC105378098 SLC22A3 LPAL2 LPA AGPAT4 MAP3K4 PLG
esv3576243	Chr6:161178374 - 161396606 on Build GRCh38	Gain	PARK2 AGPAT4
esv2752091	Chr6:161171068 - 161434753 on Build GRCh38	Gain	PARK2 AGPAT4

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