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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SH3GLB2 | NM_001287045.1 | 13 | 1492 | NP_001273974.1 |
NM_001287046.1 | NP_001273975.1 | |||
NM_020145.3 | 11 | 1465 | NP_064530.1 | |
XM_005252098.2 | 12 | 1448 | XP_005252155.1 | |
XM_005252100.2 | 11 | 1384 | XP_005252157.1 | |
XM_005252101.3 | 9 | 1123 | XP_005252158.1 | |
XM_006717188.2 | 13 | 1536 | XP_006717251.1 | |
XM_006717189.2 | 12 | 1519 | XP_006717252.1 | |
XM_006717190.1 | 12 | 1521 | XP_006717253.1 | |
XM_006717191.1 | 12 | 1449 | XP_006717254.1 | |
AB058751.2 | 13 | 1418 | ||
AF257319.1 | AAF81226.1 | |||
AF258589.1 | AAG23792.1 | |||
AF370426.1 | 4 | 2001 | AAQ15262.1 | |
AF370433.1 | 4 | 1237 | AAQ15269.1 | |
AL832592.1 | 4 | 4355 | ||
BC014635.1 | 11 | 1412 | 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 | NUP188 PTPA MIGA2 DOLPP1 CRAT SH3GLB2 |
nsv509323 | Chr.9:128991062 - 129129399 on Build GRCh38 | Insertion | NUP188 PTPA MIGA2 DOLPP1 CRAT SH3GLB2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |