Assay Details
Target Gene Details
Entrez Gene ID: | 51332 |
Gene Name: | spectrin beta, non-erythrocytic 5 |
Gene Aliases: |
BSPECV, HUBSPECV, HUSPECV |
Location: |
Chr.15:41848146-41894077 on Build GRCh38 |
Assay Gene Location: | Within Intron 55 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPTBN5 | NM_016642.3 | NP_057726.4 | ||
XM_017022299.1 | XP_016877788.1 | |||
XM_017022300.1 | XP_016877789.1 | |||
XM_017022301.1 | XP_016877790.1 | |||
XM_017022302.1 | XP_016877791.1 | |||
AF233523.1 | AAF65317.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9244 | Chr.15:41818514 - 41916607 on Build GRCh38 | Gain | SPTBN5 PLA2G4B JMJD7-PLA2G4B MIR4310 LOC105370792 EHD4 MAPKBP1 JMJD7 |
nsv1035998 | Chr.15:41806698 - 42142056 on Build GRCh38 | Gain | SPTBN5 PLA2G4E PLA2G4F JMJD7-PLA2G4B MIR4310 LOC105370792 MAPKBP1 JMJD7 PLA2G4D PLA2G4B EHD4-AS1 EHD4 PLA2G4E-AS1 |
nsv1038933 | Chr.15:41846258 - 42016889 on Build GRCh38 | Gain | SPTBN5 PLA2G4B PLA2G4E JMJD7-PLA2G4B MIR4310 EHD4-AS1 LOC105370792 EHD4 PLA2G4E-AS1 |
nsv1050892 | Chr.15:41836657 - 41894284 on Build GRCh38 | Gain | SPTBN5 PLA2G4B JMJD7-PLA2G4B MIR4310 LOC105370792 JMJD7 |
nsv1506 | Chr.15:41824733 - 41857173 on Build GRCh38 | Insertion | SPTBN5 PLA2G4B JMJD7-PLA2G4B MAPKBP1 JMJD7 |
nsv952613 | Chr.15:41816803 - 41884902 on Build GRCh38 | Deletion | SPTBN5 PLA2G4B JMJD7-PLA2G4B MIR4310 MAPKBP1 JMJD7 |
nsv517631 | Chr.15:41804728 - 41895294 on Build GRCh38 | Loss | SPTBN5 PLA2G4B JMJD7-PLA2G4B MIR4310 LOC105370792 MAPKBP1 JMJD7 |
dgv2582n100 | Chr.15:41791376 - 41900562 on Build GRCh38 | Gain | SPTBN5 PLA2G4B JMJD7-PLA2G4B MIR4310 LOC105370792 EHD4 MAPKBP1 JMJD7 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |