Product Details

Assay Reference Genome Location: Chr.6:18120570 on build GRCh38
Cytoband: 6p22.3
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 378884
Gene Symbol: NHLRC1
Gene Name: NHL repeat containing E3 ubiquitin protein ligase 1
Gene Aliases: EPM2A, EPM2B, MALIN, bA204B7.2
Location: Chr.6:18120487-18122620 on build GRCh38
Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
NHLRC1	NM_198586.2	1	2051	NP_940988.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv601049	Chr6:18099363 - 18131233 on Build GRCh38	Gain	NHLRC1 TPMT
nsv1034755	Chr6:18064320 - 18173781 on Build GRCh38	Loss	NHLRC1 TPMT KDM1B
nsv830597	Chr6:17953708 - 18123601 on Build GRCh38	Loss	KIF13A NHLRC1

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