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