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 | CPLX1 CTBP1-AS MYL5 MFSD7 TMEM175 UVSSA CTBP1-AS2 CTBP1 RNF212 LOC101928548 LOC101928521 LOC105374344 SLC26A1 TMED11P DGKQ PDE6B MAEA LOC100129917 SPON2 LOC107986211 FGFRL1 GAK ATP5I CRIPAK LOC100130872 PCGF3 NKX1-1 IDUA |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | LOC101928521 LOC107986211 PIGG ATP5I MYL5 MFSD7 PCGF3 PDE6B |
More Information
Additional Information:
For this assay, SNP(s) [rs74885662] 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 |