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 | 4138 | NP_115612.4 |
AF502942.1 | AAP30832.1 | |||
AI248244.1 | 1 | 328 | ||
AK002190.1 | BAA92128.1 | |||
BQ027743.1 |
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)