Assay Details
Target Gene Details
Entrez Gene ID: | 10243 |
Gene Name: | gephyrin |
Gene Aliases: |
GEPH, GPH, GPHRYN, HKPX1, MOCODC |
Location: |
Chr.14:66507407-67735831 on Build GRCh38 |
Assay Gene Location: | Within Intron 30 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GPHN | XM_017020925.1 | XP_016876414.1 |
Target Gene Details
Entrez Gene ID: | 26499 |
Gene Name: | pleckstrin 2 |
Gene Aliases: |
- |
Location: |
Chr.14:67386979-67412200 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLEK2 | NM_016445.2 | NP_057529.1 | ||
XM_011536644.2 | XP_011534946.1 | |||
AF228603.1 | AAF34791.1 | |||
BC001226.1 | AAH01226.1 | |||
BC008056.2 | AAH08056.2 | |||
CR976852.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2751285 | Chr.14:66898030 - 67420064 on Build GRCh38 | Gain |
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esv2661146 | Chr.14:67397040 - 67425328 on Build GRCh38 | Deletion |
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nsv1319 | Chr.14:67396844 - 67442008 on Build GRCh38 | Deletion |
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nsv1318 | Chr.14:67393582 - 67407079 on Build GRCh38 | Insertion |
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nsv509539 | Chr.14:67383566 - 67405348 on Build GRCh38 | Insertion |
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nsv456331 | Chr.14:67266144 - 67637063 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)