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: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCM2L | NM_080625.3 | 4 | 386 | NP_542192.2 |
XM_006723706.3 | 4 | 449 | XP_006723769.1 | |
XM_011528566.1 | 4 | 449 | XP_011526868.1 | |
XM_011528567.2 | 4 | 449 | XP_011526869.1 | |
XM_011528568.2 | 5 | 575 | XP_011526870.1 | |
XM_011528569.1 | 4 | 449 | XP_011526871.1 | |
AK057090.1 | 4 | 383 | BAB71363.1 | |
BC030254.1 | 4 | 378 | AAH30254.1 | |
CA406781.1 | 4 | 385 | ||
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 | CCM2L TTLL9 DUSP15 XKR7 PDRG1 |
dgv4300n100 | Chr.20:31247234 - 32033468 on Build GRCh38 | Gain | CCM2L TTLL9 XKR7 MYLK2 DEFB121 DEFB115 ID1 DEFB119 MIR3193 BCL2L1 DEFB116 DEFB122 DEFB117 HM13-AS1 COX4I2 TPX2 DEFB123 DEFB118 DEFB124 LOC107985416 FOXS1 ABALON REM1 DUSP15 LINC00028 HM13 PDRG1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |