Assay Details
Target Gene Details
Entrez Gene ID: | 81928 |
Gene Name: | Cdk5 and Abl enzyme substrate 2 |
Gene Aliases: |
C20orf150, dJ908M14.2, ik3-2 |
Location: |
Chr.20:62388630-62407283 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CABLES2 | NM_031215.2 | 10 | 3592 | NP_112492.2 |
AI066606.1 | 1 | 200 | ||
BC003122.1 | 8 | 3127 | AAH03122.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422398 | Chr.20:62207833 - 62674040 on Build GRCh38 | Duplication | LAMA5-AS1 GATA5 MIR1-1HG ADRM1 MIR4758 RBBP8NL LAMA5 SLCO4A1-AS1 MIR133A2 C20orf166-AS1 HRH3 LOC105369209 CABLES2 RPS21 OSBPL2 MIR1-1 SLCO4A1 |
nsv828774 | Chr.20:62378159 - 62404579 on Build GRCh38 | Loss | RPS21 CABLES2 |
nsv586496 | Chr.20:62332390 - 62812195 on Build GRCh38 | Gain | LOC107987285 MRGBP NTSR1 LAMA5-AS1 GATA5 OGFR MIR1-1HG MIR4758 RBBP8NL LAMA5 SLCO4A1-AS1 MIR133A2 C20orf166-AS1 CABLES2 RPS21 OGFR-AS1 MIR1-1 LOC107985428 LINC00659 SLCO4A1 |
nsv470557 | Chr.20:62312525 - 62415019 on Build GRCh38 | Gain | LAMA5-AS1 RPS21 MIR4758 RBBP8NL LAMA5 CABLES2 |
nsv586497 | Chr.20:62345988 - 62415019 on Build GRCh38 | Loss | LAMA5-AS1 RPS21 RBBP8NL LAMA5 CABLES2 |
nsv953302 | Chr.20:62345345 - 62831248 on Build GRCh38 | Deletion | LOC107987285 MRGBP NTSR1 LAMA5-AS1 GATA5 OGFR MIR1-1HG RBBP8NL LAMA5 SLCO4A1-AS1 MIR133A2 C20orf166-AS1 CABLES2 RPS21 OGFR-AS1 MIR1-1 LOC107985428 LINC00659 SLCO4A1 COL9A3 |
nsv518296 | Chr.20:62203245 - 62415019 on Build GRCh38 | Loss | MTG2 LAMA5-AS1 RPS21 OSBPL2 ADRM1 MIR4758 RBBP8NL LAMA5 HRH3 LOC105369209 CABLES2 |
dgv7650n54 | Chr.20:62315508 - 62394547 on Build GRCh38 | Loss | LAMA5-AS1 RPS21 MIR4758 LAMA5 CABLES2 |
nsv586498 | Chr.20:62387568 - 62415019 on Build GRCh38 | Loss | RPS21 RBBP8NL CABLES2 |
nsv828776 | Chr.20:62388582 - 62389082 on Build GRCh38 | Gain | CABLES2 |
nsv834024 | Chr.20:62259914 - 62455522 on Build GRCh38 | Gain | LAMA5-AS1 RPS21 OSBPL2 ADRM1 MIR4758 RBBP8NL LAMA5 CABLES2 |
nsv470556 | Chr.20:62212004 - 62577283 on Build GRCh38 | Loss | LAMA5-AS1 GATA5 MIR1-1HG ADRM1 MIR4758 RBBP8NL LAMA5 MIR133A2 C20orf166-AS1 HRH3 LOC105369209 CABLES2 RPS21 OSBPL2 MIR1-1 |
More Information
Additional Information:
For this assay, SNP(s) [rs77314867] 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 Exonic DGV Variation |