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 |
---|---|---|---|
esv2759217 | Chr.4:609419 - 937566 on Build GRCh38 | Loss | LOC101928521 LOC100129917 GAK PDE6B ATP5I LOC107986211 CPLX1 PCGF3 MFSD7 MYL5 TMEM175 |
nsv593205 | Chr.4:608002 - 629840 on Build GRCh38 | Loss | PDE6B |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | LOC100129917 LOC105374344 CRIPAK TMED11P CTBP1 LOC100130872 FGFRL1 MAEA CTBP1-AS2 CPLX1 MYL5 RNF212 GAK ATP5I UVSSA SLC26A1 LOC101928521 IDUA PDE6B LOC101928548 SPON2 LOC107986211 DGKQ NKX1-1 PCGF3 MFSD7 CTBP1-AS TMEM175 |
nsv950325 | Chr.4:620112 - 796912 on Build GRCh38 | Deletion | LOC101928521 LOC100129917 PDE6B ATP5I LOC107986211 CPLX1 PCGF3 MFSD7 MYL5 |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | LOC101928521 PDE6B ATP5I LOC107986211 PIGG PCGF3 MFSD7 MYL5 |
esv993737 | Chr.4:624323 - 635048 on Build GRCh38 | Deletion | PDE6B |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |