Assay Details
Target Gene Details
Entrez Gene ID: | 140706 |
Gene Name: | CCM2 like scaffolding protein |
Gene Aliases: |
C20orf160, dJ310O13.5 |
Location: |
Chr.20:32010379-32032182 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 4 - Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCM2L | NM_080625.3 | NP_542192.2 | ||
XM_006723706.3 | XP_006723769.1 | |||
XM_011528566.1 | XP_011526868.1 | |||
XM_011528567.2 | XP_011526869.1 | |||
XM_011528568.2 | XP_011526870.1 | |||
XM_011528569.1 | XP_011526871.1 | |||
AK057090.1 | BAB71363.1 | |||
BC030254.1 | AAH30254.1 | |||
CA406781.1 | ||||
DA936380.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833952 | Chr.20:31855501 - 32049500 on Build GRCh38 | Gain | DUSP15 XKR7 CCM2L TTLL9 PDRG1 |
dgv4300n100 | Chr.20:31247234 - 32033468 on Build GRCh38 | Gain | REM1 FOXS1 DEFB121 DEFB118 MYLK2 TPX2 TTLL9 XKR7 DEFB123 DEFB117 DEFB116 HM13 BCL2L1 DEFB124 DEFB119 LOC107985416 LINC00028 MIR3193 DEFB122 HM13-AS1 ID1 CCM2L DUSP15 DEFB115 COX4I2 ABALON PDRG1 |
More Information
Additional Information:
For this assay, SNP(s) [rs116674851] 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 Non-exonic DGV Variation |