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: | Overlaps Intron 22 - Exon 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
USP48 | NM_032236.5 | NP_115612.4 | ||
XM_005246009.2 | XP_005246066.1 | |||
XM_006710951.2 | XP_006711014.2 | |||
XM_006710955.3 | XP_006711018.1 | |||
XM_011542262.2 | XP_011540564.1 | |||
XM_011542263.2 | XP_011540565.1 | |||
XM_011542264.1 | XP_011540566.1 | |||
XM_011542265.2 | XP_011540567.1 | |||
XM_011542267.2 | XP_011540569.1 | |||
XM_011542268.2 | XP_011540570.1 | |||
XM_017002495.1 | XP_016857984.1 | |||
XM_017002497.1 | XP_016857986.1 | |||
AF502942.1 | AAP30832.1 | |||
AK002190.1 | BAA92128.1 | |||
AK026707.1 | BAB15533.1 | |||
AK226150.1 | ||||
AK315005.1 | ||||
AL834375.1 | CAD39038.1 | |||
BC007326.2 | AAH07326.2 | |||
BC013567.1 | AAH13567.1 | |||
BC104896.1 | AAI04897.1 | |||
BC143343.1 | ||||
BC143349.1 | ||||
BC143354.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1126184 | Chr.1:21704707 - 21707607 on Build GRCh38 | Deletion | USP48 |
nsv1008548 | Chr.1:21694652 - 21741766 on Build GRCh38 | Loss | USP48 |
nsv834391 | Chr.1:21523440 - 21723989 on Build GRCh38 | Loss | ALPL RAP1GAP USP48 |
esv34155 | Chr.1:21367084 - 21840123 on Build GRCh38 | Loss | LDLRAD2 HSPG2 NBPF3 ALPL RAP1GAP USP48 |
nsv5854 | Chr.1:21676656 - 21711616 on Build GRCh38 | Insertion | USP48 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |