Assay Details
Target Gene Details
Entrez Gene ID: | 29115 |
Gene Name: | SAP30 binding protein |
Gene Aliases: |
HCNGP, HTRG, HTRP |
Location: |
Chr.17:75667116-75708062 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 3 - Intron 3 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833544 | Chr.17:75595541 - 75771639 on Build GRCh38 | Loss | SMIM5 SMIM6 RECQL5 MYO15B GALK1 SAP30BP ITGB4 |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | SMIM5 SMIM6 CASKIN2 TSEN54 TMEM94 RECQL5 MYO15B SAP30BP ITGB4 MIR6785 LLGL2 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | SMIM5 SMIM6 CASKIN2 TSEN54 TMEM94 RECQL5 MYO15B GALK1 SAP30BP ITGB4 MIR6785 LLGL2 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | MIR3678 SMIM6 GGA3 MRPS7 RECQL5 ITGB4 LOC100287042 LLGL2 SLC25A19 SMIM5 CASKIN2 MIF4GD TSEN54 TMEM94 MYO15B GRB2 SAP30BP MIR6785 |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | SMIM5 SMIM6 TSEN54 RECQL5 MYO15B SAP30BP LLGL2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |