Product Details

Assay Reference Genome
Location

Chr.8:86575903 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 Exon 19
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CNGB3 NM_019098.4 18 2379 NP_061971.3
XM_011517138.2 16 2034 XP_011515440.1
AF228520.1 15 1977 AAF80179.1
AF272900.1 18 2377 AAF86274.1
BC150601.1 18 2357

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 RMDN1 CPNE3 WWP1 CNGB3

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