Product Details

Assay Reference Genome Location: Chr.17:35578584 on build GRCh38
Cytoband: 17q12
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 5193
Gene Symbol: PEX12
Gene Name: peroxisomal biogenesis factor 12
Gene Aliases: PAF-3, PBD3A
Location: Chr.17:35574795-35578637 on build GRCh38
Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
PEX12	NM_000286.2	1	54	NP_000277.1
	AK312635.1
	BC015751.1
	BC031085.1			AAH31085.1
	DA298874.1	1	61
	U91521.1			AAC68812.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953880	Chr17:35574482 - 35580081 on Build GRCh38	Duplication	PEX12
nsv2038	Chr17:35569617 - 35598796 on Build GRCh38	Insertion	AP2B1 LOC105371743 SNORD7 PEX12
esv3892999	Chr17:35252863 - 35925533 on Build GRCh38	Loss	SLFN12L SLFN14 HEATR9 AP2B1 SLFN11 SLFN5 MMP28 GAS2L2 SNORD7 CCL5 PEX12 RDM1 TAF15 SLFN13 C17orf50 SLFN12 LOC105371743 LRRC37A8P LOC105371933 RASL10B

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