Product Details

Assay Reference Genome Location: Chr.8:86585126 on build GRCh38
Cytoband: 8q21.3
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 54714
Gene Symbol: CNGB3
Gene Name: cyclic nucleotide gated channel beta 3
Gene Aliases: ACHM1
Location: Chr.8:86573608-86743675 on build GRCh38
Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
CNGB3	NM_019098.4			NP_061971.3
	XM_011517138.2			XP_011515440.1
	AF228520.1			AAF80179.1
	AF272900.1			AAF86274.1
	BC150601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422239	Chr8:86535165 - 87814698 on Build GRCh38	Duplication	CNBD1 CPNE3 CNGB3
nsv1023510	Chr8:86416772 - 86862720 on Build GRCh38	Loss	CPNE3 RMDN1 WWP1 CNGB3

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