Product Details

Assay Reference Genome Location: Chr.9:27561554 on build GRCh38
Cytoband: 9p21.2
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 203228
Gene Symbol: C9orf72
Gene Name: chromosome 9 open reading frame 72
Gene Aliases: ALSFTD, FTDALS, FTDALS1
Location: Chr.9:27546546-27573866 on build GRCh38
Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
C9orf72	NM_001256054.2			NP_001242983.1
	NM_018325.4			NP_060795.1
	NM_145005.6	5	820	NP_659442.2
	AK057806.1	5	798	BAB71583.1
	AK291425.1
	AL832229.1
	AL832467.1
	BC068445.1			AAH68445.1
	JN681271.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1015259	Chr9:26347305 - 27643043 on Build GRCh38	Gain	EQTN C9orf72 PLAA IFT74 IFT74-AS1 IFNK LRRC19 LINC00032 MOB3B CAAP1 TEK

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