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 9 - Exon 10 |
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 | |||
AK125588.1 | ||||
BC030254.1 | AAH30254.1 | |||
BC032455.1 | AAH32455.1 | |||
CA406781.1 |
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 | XKR7 TTLL9 DUSP15 CCM2L PDRG1 |
dgv4300n100 | Chr.20:31247234 - 32033468 on Build GRCh38 | Gain | DEFB121 DEFB117 LOC107985416 LINC00028 DEFB118 DEFB116 PDRG1 TPX2 XKR7 DEFB124 TTLL9 DUSP15 REM1 HM13-AS1 MYLK2 BCL2L1 ID1 FOXS1 DEFB123 COX4I2 DEFB119 DEFB115 MIR3193 HM13 DEFB122 ABALON CCM2L |
nsv833953 | Chr.20:32022592 - 32204778 on Build GRCh38 | Loss | TSPY26P TM9SF4 HCK CCM2L PLAGL2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |