Assay Details
Target Gene Details
Entrez Gene ID: | 57513 |
Gene Name: | CASK interacting protein 2 |
Gene Aliases: |
ANKS5B |
Location: |
Chr.17:75500260-75515583 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CASKIN2 | NM_001142643.2 | 18 | 3463 | NP_001136115.1 |
NM_020753.4 | 19 | 3980 | NP_065804.2 | |
AB032965.1 | 15 | 3159 | ||
AF451976.1 | 19 | 3833 | AAL49757.1 | |
AK025262.1 | 4 | 1167 | ||
AK300354.1 | 18 | 3410 | ||
AK315936.1 | 18 | 3464 | ||
BC066643.1 | 19 | 3943 | AAH66643.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | TSEN54 RECQL5 SMIM5 CASKIN2 TMEM94 MYO15B MIR6785 SAP30BP LLGL2 SMIM6 ITGB4 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | TSEN54 RECQL5 SMIM5 CASKIN2 TMEM94 GALK1 MYO15B MIR6785 SAP30BP LLGL2 SMIM6 ITGB4 |
nsv952368 | Chr.17:75487920 - 75522019 on Build GRCh38 | Deletion | TSEN54 CASKIN2 TMEM94 MIR6785 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | TSEN54 MIR3678 CASKIN2 TMEM94 MYO15B MRPS7 GGA3 GRB2 MIF4GD LOC100287042 SAP30BP LLGL2 SMIM6 RECQL5 SMIM5 MIR6785 SLC25A19 ITGB4 |
nsv833542 | Chr.17:75441043 - 75544993 on Build GRCh38 | Loss | TSEN54 CASKIN2 TMEM94 MIR6785 LLGL2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |