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

Chr.4:626094 on build GRCh38
Cytoband
4p16.3
Assay ID Hs00100733_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 Exon 4 - Intron 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PDE6B NM_000283.3 NP_000274.2
NM_001145291.1 NP_001138763.1
XM_011513473.2 XP_011511775.1
XM_011513474.2 XP_011511776.1
XM_011513475.2 XP_011511777.1
XM_011513476.2 XP_011511778.1
BC000249.1 AAH00249.1
BT009794.1 AAP88796.1
S41458.1 AAB22690.1
X66142.1 CAA46932.1

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 PDE6B CPLX1 MYL5 ATP5I PCGF3 MFSD7 LOC100129917 LOC107986211 TMEM175 GAK LOC101928521
nsv822425 Chr.4:546316 - 1420011 on Build GRCh38 Loss LOC100130872 TMED11P CTBP1-AS2 DGKQ SLC26A1 CTBP1 PDE6B CPLX1 MYL5 MAEA MFSD7 IDUA LOC107986211 GAK CRIPAK LOC101928548 FGFRL1 CTBP1-AS TMEM175 SPON2 UVSSA ATP5I PCGF3 LOC105374344 LOC100129917 NKX1-1 LOC101928521 RNF212
nsv593205 Chr.4:608002 - 629840 on Build GRCh38 Loss PDE6B
nsv950325 Chr.4:620112 - 796912 on Build GRCh38 Deletion PDE6B CPLX1 MYL5 ATP5I PCGF3 MFSD7 LOC100129917 LOC107986211 LOC101928521
nsv508986 Chr.4:527899 - 756994 on Build GRCh38 Insertion PDE6B PIGG MYL5 ATP5I PCGF3 MFSD7 LOC107986211 LOC101928521
esv993737 Chr.4:624323 - 635048 on Build GRCh38 Deletion PDE6B

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