Assay Details
Target Gene Details
Entrez Gene ID: | 56904 |
Gene Name: | SH3 domain containing GRB2 like endophilin B2 |
Gene Aliases: |
PP6569, PP9455, RRIG1 |
Location: |
Chr.9:129007792-129028353 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SH3GLB2 | NM_001287045.1 | 2 | 306 | NP_001273974.1 |
NM_001287046.1 | 2 | 306 | NP_001273975.1 | |
NM_020145.3 | 2 | 306 | NP_064530.1 | |
XM_005252098.2 | 2 | 274 | XP_005252155.1 | |
XM_005252100.2 | 2 | 273 | XP_005252157.1 | |
XM_005252101.3 | XP_005252158.1 | |||
XM_006717188.2 | 2 | 278 | XP_006717251.1 | |
XM_006717189.2 | 2 | 273 | XP_006717252.1 | |
XM_006717190.1 | 2 | 278 | XP_006717253.1 | |
XM_006717191.1 | 2 | 278 | XP_006717254.1 | |
AB058751.2 | 2 | 232 | ||
AF257319.1 | 2 | 167 | AAF81226.1 | |
AF258589.1 | 2 | 219 | AAG23792.1 | |
BC014635.1 | 2 | 253 | AAH14635.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831729 | Chr.9:128973042 - 129158330 on Build GRCh38 | Loss | MIGA2 SH3GLB2 NUP188 DOLPP1 CRAT PTPA |
nsv509323 | Chr.9:128991062 - 129129399 on Build GRCh38 | Insertion | MIGA2 SH3GLB2 NUP188 DOLPP1 CRAT PTPA |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |