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