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 Exon 69 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPTBN5 | NM_016642.3 | 68 | 11604 | NP_057726.4 |
XM_017022299.1 | 66 | 11582 | XP_016877788.1 | |
XM_017022300.1 | 67 | 11462 | XP_016877789.1 | |
XM_017022301.1 | 62 | 11033 | XP_016877790.1 | |
XM_017022302.1 | 54 | 8831 | XP_016877791.1 | |
AA599654.1 | 1 | 145 | ||
AF233523.1 | 68 | 11604 | AAF65317.1 | |
BF515053.1 | 1 | 136 |
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 | EHD4 JMJD7-PLA2G4B MAPKBP1 SPTBN5 PLA2G4B LOC105370792 MIR4310 JMJD7 |
nsv1035998 | Chr.15:41806698 - 42142056 on Build GRCh38 | Gain | PLA2G4D EHD4 PLA2G4F PLA2G4B MIR4310 PLA2G4E JMJD7 PLA2G4E-AS1 JMJD7-PLA2G4B MAPKBP1 SPTBN5 EHD4-AS1 LOC105370792 |
nsv1038933 | Chr.15:41846258 - 42016889 on Build GRCh38 | Gain | PLA2G4E-AS1 EHD4 JMJD7-PLA2G4B SPTBN5 PLA2G4B EHD4-AS1 LOC105370792 MIR4310 PLA2G4E |
nsv1050892 | Chr.15:41836657 - 41894284 on Build GRCh38 | Gain | JMJD7-PLA2G4B SPTBN5 PLA2G4B LOC105370792 MIR4310 JMJD7 |
nsv1506 | Chr.15:41824733 - 41857173 on Build GRCh38 | Insertion | JMJD7-PLA2G4B MAPKBP1 SPTBN5 PLA2G4B JMJD7 |
nsv952613 | Chr.15:41816803 - 41884902 on Build GRCh38 | Deletion | JMJD7-PLA2G4B MAPKBP1 SPTBN5 PLA2G4B MIR4310 JMJD7 |
nsv517631 | Chr.15:41804728 - 41895294 on Build GRCh38 | Loss | JMJD7-PLA2G4B MAPKBP1 SPTBN5 PLA2G4B LOC105370792 MIR4310 JMJD7 |
dgv2582n100 | Chr.15:41791376 - 41900562 on Build GRCh38 | Gain | EHD4 JMJD7-PLA2G4B MAPKBP1 SPTBN5 PLA2G4B LOC105370792 MIR4310 JMJD7 |
More Information
Additional Information:
For this assay, SNP(s) [rs114867913,rs115689014] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |