Assay Details
Target Gene Details
Entrez Gene ID: | 84196 |
Gene Name: | ubiquitin specific peptidase 48 |
Gene Aliases: |
RAP1GA1, USP31 |
Location: |
Chr.1:21678298-21783620 on Build GRCh38 |
Assay Gene Location: | Within Exon 30 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
USP48 | NM_032236.5 | 27 | 3491 | NP_115612.4 |
XM_005246009.2 | 26 | 3339 | XP_005246066.1 | |
XM_006710951.2 | 27 | 3489 | XP_006711014.2 | |
XM_006710955.3 | 26 | 3273 | XP_006711018.1 | |
XM_011542262.2 | 27 | 3385 | XP_011540564.1 | |
XM_011542263.2 | 27 | 3385 | XP_011540565.1 | |
XM_011542264.1 | 26 | 3085 | XP_011540566.1 | |
XM_011542265.2 | 28 | 4051 | XP_011540567.1 | |
XM_011542267.2 | 27 | 3404 | XP_011540569.1 | |
XM_011542268.2 | 19 | 2104 | XP_011540570.1 | |
XM_017002495.1 | 26 | 3294 | XP_016857984.1 | |
XM_017002497.1 | 19 | 2149 | XP_016857986.1 | |
AF502942.1 | 27 | 3393 | AAP30832.1 | |
AK002190.1 | 11 | 1122 | BAA92128.1 | |
AK026707.1 | 15 | 1999 | BAB15533.1 | |
AK226150.1 | 26 | 3289 | ||
AL834375.1 | 12 | 1184 | CAD39038.1 | |
BC007326.2 | AAH07326.2 | |||
BC013567.1 | 11 | 1169 | AAH13567.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834391 | Chr.1:21523440 - 21723989 on Build GRCh38 | Loss |
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esv34155 | Chr.1:21367084 - 21840123 on Build GRCh38 | Loss |
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nsv5854 | Chr.1:21676656 - 21711616 on Build GRCh38 | Insertion |
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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)