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See other PDE6B CNV Assays ›
Gene Symbol
PDE6B
Assay Reference Genome
Location

Chr.4:624226 on build GRCh38
Cytoband
4p16.3
Assay ID Hs04272193_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 5158

Gene Name:

 phosphodiesterase 6B

Gene Aliases:

 CSNB3, CSNBAD2, PDEB, RP40, rd1

Location:

 Chr.4:587593-670892 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 2 - Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PDE6B XM_011513473.2 XP_011511775.1
XM_011513474.2 XP_011511776.1
XM_011513475.2 XP_011511777.1
XM_011513476.2 XP_011511778.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2759217 Chr.4:609419 - 937566 on Build GRCh38 Loss TMEM175 CPLX1 PDE6B LOC100129917 MYL5 LOC101928521 MFSD7 GAK ATP5I LOC107986211 PCGF3
nsv593205 Chr.4:608002 - 629840 on Build GRCh38 Loss PDE6B
nsv822425 Chr.4:546316 - 1420011 on Build GRCh38 Loss CTBP1-AS PDE6B LOC100129917 DGKQ LOC101928548 FGFRL1 SPON2 LOC107986211 PCGF3 TMEM175 LOC100130872 CRIPAK MYL5 LOC101928521 MAEA SLC26A1 IDUA UVSSA TMED11P NKX1-1 CTBP1 GAK ATP5I CPLX1 LOC105374344 CTBP1-AS2 RNF212 MFSD7
nsv950325 Chr.4:620112 - 796912 on Build GRCh38 Deletion CPLX1 PDE6B LOC100129917 MYL5 LOC101928521 MFSD7 ATP5I LOC107986211 PCGF3
nsv508986 Chr.4:527899 - 756994 on Build GRCh38 Insertion PIGG PDE6B MYL5 LOC101928521 MFSD7 ATP5I LOC107986211 PCGF3

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