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 |
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 |