Assay Details
Target Gene Details
Entrez Gene ID: | 6712 |
Gene Name: | spectrin beta, non-erythrocytic 2 |
Gene Aliases: |
GTRAP41, SCA5, SCAR14 |
Location: |
Chr.11:66682496-66729361 on Build GRCh38 |
Assay Gene Location: | Within Exon 43 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPTBN2 | NM_006946.2 | 37 | 7354 | NP_008877.1 |
XM_005274192.4 | 38 | 8016 | XP_005274249.1 | |
XM_005274193.3 | 37 | 7790 | XP_005274250.1 | |
XM_006718669.3 | 36 | 9703 | XP_006718732.1 | |
XM_006718671.3 | 38 | 7416 | XP_006718734.1 | |
XM_017018174.1 | 38 | 8108 | XP_016873663.1 | |
XM_017018175.1 | 38 | 7737 | XP_016873664.1 | |
XM_017018176.1 | 38 | 7457 | XP_016873665.1 | |
XM_017018177.1 | 37 | 7646 | XP_016873666.1 | |
XM_017018178.1 | 37 | 7329 | XP_016873667.1 | |
AB008567.1 | 37 | 7354 | ||
AF026487.1 | 11 | 1587 | AAC79502.1 | |
AF026488.1 | 5 | 1166 | AAC79503.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518919 | Chr.11:66641938 - 66700998 on Build GRCh38 | Loss | SPTBN2 RBM4B RBM4 RBM14-RBM4 |
nsv522277 | Chr.11:66466552 - 66726354 on Build GRCh38 | Loss | RBM4B PELI3 RBM14-RBM4 CCDC87 LOC101928069 BBS1 CTSF ZDHHC24 ACTN3 CCS SPTBN2 RBM14 RBM4 DPP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |