Assay Details
Target Gene Details
Entrez Gene ID: | 8573 |
Gene Name: | calcium/calmodulin dependent serine protein kinase |
Gene Aliases: |
CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8 |
Location: |
Chr.X:41514934-41923525 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CASK | NM_001126054.2 | NP_001119526.1 | ||
NM_001126055.2 | NP_001119527.1 | |||
NM_003688.3 | NP_003679.2 | |||
XM_005272686.4 | XP_005272743.1 | |||
XM_006724566.3 | XP_006724629.1 | |||
XM_011543993.2 | XP_011542295.1 | |||
XM_011543994.2 | XP_011542296.1 | |||
XM_011543995.2 | XP_011542297.1 | |||
XM_011543996.2 | XP_011542298.1 | |||
AB208859.1 | BAD92096.1 | |||
AF032119.1 | AAB88125.1 | |||
AF035582.1 | AAB88198.1 | |||
AF262405.1 | AAF72667.1 | |||
AK313399.1 | ||||
AY705392.1 | AAU10527.1 | |||
BC117311.1 | ||||
BC143454.1 | ||||
BC143456.1 | ||||
DN993605.1 |
Target Gene Details
Entrez Gene ID: | 2857 |
Gene Name: | G protein-coupled receptor 34 |
Gene Aliases: |
LYPSR1 |
Location: |
Chr.X:41686543-41697277 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GPR34 | NM_001097579.1 | 3 | 613 | NP_001091048.1 |
NM_005300.3 | 3 | 537 | NP_005291.1 | |
XM_005272597.3 | 3 | 3040 | XP_005272654.1 | |
AF039686.1 | 1 | 407 | AAD50531.1 | |
AK027780.1 | 3 | 613 | BAB55362.1 | |
AK074627.1 | 3 | 759 | ||
AK075217.1 | 3 | 528 | ||
AK122945.1 | 1 | 1970 | ||
BC020678.1 | 3 | 504 | AAH20678.1 | |
DQ106398.1 | 3 | 604 | AAZ99227.1 | |
DQ106399.1 | 4 | 671 | AAZ99228.1 | |
DQ106400.1 | 4 | 717 | AAZ99229.1 | |
DQ106401.1 | 3 | 463 | AAZ99230.1 | |
DQ106402.1 | 4 | 465 | AAZ99231.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv33720 | Chr.X:40891487 - 43157518 on Build GRCh38 | Loss | CASK PPP1R2P9 LOC643043 LOC107985678 NYX GPR34 DDX3X USP9X GPR82 LOC105373185 |
nsv523134 | Chr.X:41600467 - 41917489 on Build GRCh38 | Gain | CASK GPR34 GPR82 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |