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

Chr.4:632362 on build GRCh38
Cytoband
4p16.3
Assay ID Hs03529999_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

 Within 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
nsv593206 Chr.4:632173 - 741362 on Build GRCh38 Loss LOC101928521 PDE6B PCGF3 MYL5 ATP5I MFSD7
esv2759217 Chr.4:609419 - 937566 on Build GRCh38 Loss LOC101928521 PDE6B LOC100129917 PCGF3 MYL5 ATP5I LOC107986211 TMEM175 GAK MFSD7 CPLX1
nsv822425 Chr.4:546316 - 1420011 on Build GRCh38 Loss UVSSA LOC105374344 CRIPAK NKX1-1 PCGF3 ATP5I CTBP1-AS RNF212 SPON2 LOC100130872 IDUA LOC100129917 FGFRL1 CTBP1-AS2 MYL5 GAK DGKQ MFSD7 CPLX1 PDE6B LOC101928548 LOC107986211 SLC26A1 LOC101928521 TMED11P CTBP1 TMEM175 MAEA
nsv950325 Chr.4:620112 - 796912 on Build GRCh38 Deletion LOC101928521 PDE6B LOC100129917 PCGF3 MYL5 ATP5I LOC107986211 MFSD7 CPLX1
nsv508986 Chr.4:527899 - 756994 on Build GRCh38 Insertion LOC101928521 PDE6B PCGF3 MYL5 ATP5I LOC107986211 MFSD7 PIGG
esv993737 Chr.4:624323 - 635048 on Build GRCh38 Deletion PDE6B

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More Information


Additional Information:

For this assay, SNP(s) [rs111492389] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Function(s) Process(es)


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