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: | Overlaps Intron 65 - Exon 65 | 
| 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 |  MIR4310  EHD4  PLA2G4B  MAPKBP1  LOC105370792  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
| nsv1035998 | Chr.15:41806698 - 42142056 on Build GRCh38 | Gain |  PLA2G4E-AS1  MIR4310  PLA2G4F  PLA2G4B  PLA2G4D  PLA2G4E  MAPKBP1  EHD4  EHD4-AS1  LOC105370792  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
| nsv1038933 | Chr.15:41846258 - 42016889 on Build GRCh38 | Gain |  PLA2G4E-AS1  MIR4310  EHD4  PLA2G4B  PLA2G4E  EHD4-AS1  LOC105370792  JMJD7-PLA2G4B  SPTBN5 | 
| nsv1050892 | Chr.15:41836657 - 41894284 on Build GRCh38 | Gain |  MIR4310  PLA2G4B  LOC105370792  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
| nsv1506 | Chr.15:41824733 - 41857173 on Build GRCh38 | Insertion |  PLA2G4B  MAPKBP1  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
| nsv952613 | Chr.15:41816803 - 41884902 on Build GRCh38 | Deletion |  MIR4310  PLA2G4B  MAPKBP1  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
| nsv517631 | Chr.15:41804728 - 41895294 on Build GRCh38 | Loss |  MIR4310  PLA2G4B  MAPKBP1  LOC105370792  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
| dgv2582n100 | Chr.15:41791376 - 41900562 on Build GRCh38 | Gain |  MIR4310  EHD4  PLA2G4B  MAPKBP1  LOC105370792  JMJD7  JMJD7-PLA2G4B  SPTBN5 | 
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| Set Membership: |  Intragenic  Non-exonic  DGV Variation | 
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