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 7 - Exon 8 |
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 | 1 | 318 | ||
BC030254.1 | AAH30254.1 | |||
BC032455.1 | AAH32455.1 | |||
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 TTLL9 PDRG1 CCM2L |
dgv4300n100 | Chr.20:31247234 - 32033468 on Build GRCh38 | Gain | HM13 DEFB122 TTLL9 LOC107985416 LINC00028 DEFB124 CCM2L TPX2 PDRG1 MIR3193 ID1 COX4I2 DEFB123 MYLK2 XKR7 BCL2L1 HM13-AS1 DEFB116 ABALON DEFB118 DUSP15 DEFB121 DEFB115 REM1 DEFB117 DEFB119 FOXS1 |
nsv833953 | Chr.20:32022592 - 32204778 on Build GRCh38 | Loss | TM9SF4 CCM2L TSPY26P PLAGL2 HCK |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |