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: | 64398 |
Gene Name: | membrane palmitoylated protein 5 |
Gene Aliases: |
PALS1 |
Location: |
Chr.14:67241295-67336061 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MPP5 | NM_001256550.1 | NP_001243479.1 | ||
| NM_022474.3 | NP_071919.2 | |||
| XM_005268003.1 | XP_005268060.1 | |||
| XM_011537086.2 | XP_011535388.1 | |||
| XM_011537087.2 | XP_011535389.1 | |||
| AI245706.1 | ||||
| AK057160.1 | ||||
| AK098373.1 | BAC05295.1 | |||
| AK291240.1 | ||||
| AL832326.1 | CAD38620.1 | |||
| AL832578.2 | CAD89937.1 | |||
| BC053366.1 | AAH53366.1 | |||
| BC095485.1 | AAH95485.1 | |||
| BC129933.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3634801 | Chr.14:67242836 - 67251655 on Build GRCh38 | Loss |
|
| esv2751285 | Chr.14:66898030 - 67420064 on Build GRCh38 | Gain |
|
| esv2663835 | Chr.14:67242865 - 67251556 on Build GRCh38 | Deletion |
|
| nsv832821 | Chr.14:67123701 - 67361452 on Build GRCh38 | Gain |
|
More Information
Set Membership: |
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Genomic Map