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 | 2889 | NP_112492.2 |
BC003122.1 | 8 | 2424 | 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 | MIR1-1 RPS21 MIR4758 LAMA5 ADRM1 LOC105369209 MIR133A2 OSBPL2 CABLES2 C20orf166-AS1 LAMA5-AS1 GATA5 MIR1-1HG RBBP8NL SLCO4A1 HRH3 SLCO4A1-AS1 |
nsv459065 | Chr.20:62332390 - 62812195 on Build GRCh38 | Gain | LOC107987285 MIR1-1 RPS21 MIR4758 NTSR1 LAMA5 MRGBP OGFR MIR133A2 LOC107985428 CABLES2 C20orf166-AS1 LAMA5-AS1 OGFR-AS1 LINC00659 GATA5 MIR1-1HG RBBP8NL SLCO4A1 SLCO4A1-AS1 |
nsv828774 | Chr.20:62378159 - 62404579 on Build GRCh38 | Loss | CABLES2 RPS21 |
nsv470557 | Chr.20:62312525 - 62415019 on Build GRCh38 | Gain | CABLES2 RPS21 LAMA5-AS1 MIR4758 RBBP8NL LAMA5 |
nsv586497 | Chr.20:62345988 - 62415019 on Build GRCh38 | Loss | CABLES2 RPS21 LAMA5-AS1 RBBP8NL LAMA5 |
nsv518296 | Chr.20:62203245 - 62415019 on Build GRCh38 | Loss | LOC105369209 OSBPL2 CABLES2 RPS21 LAMA5-AS1 MIR4758 RBBP8NL LAMA5 MTG2 ADRM1 HRH3 |
nsv953302 | Chr.20:62345345 - 62831248 on Build GRCh38 | Deletion | LOC107987285 MIR1-1 RPS21 NTSR1 LAMA5 MRGBP OGFR MIR133A2 LOC107985428 CABLES2 C20orf166-AS1 COL9A3 LAMA5-AS1 OGFR-AS1 LINC00659 GATA5 MIR1-1HG RBBP8NL SLCO4A1 SLCO4A1-AS1 |
dgv7650n54 | Chr.20:62315508 - 62394547 on Build GRCh38 | Loss | CABLES2 RPS21 LAMA5-AS1 MIR4758 LAMA5 |
nsv586498 | Chr.20:62387568 - 62415019 on Build GRCh38 | Loss | CABLES2 RPS21 RBBP8NL |
nsv834024 | Chr.20:62259914 - 62455522 on Build GRCh38 | Gain | OSBPL2 CABLES2 RPS21 LAMA5-AS1 MIR4758 RBBP8NL LAMA5 ADRM1 |
nsv470556 | Chr.20:62212004 - 62577283 on Build GRCh38 | Loss | MIR1-1 RPS21 MIR4758 LAMA5 ADRM1 LOC105369209 MIR133A2 OSBPL2 CABLES2 C20orf166-AS1 LAMA5-AS1 GATA5 MIR1-1HG RBBP8NL HRH3 |
More Information
Additional Information:
For this assay, SNP(s) [rs76138837] 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 |