Assay Details
Target Gene Details
Entrez Gene ID: | 6455 |
Gene Name: | SH3 domain containing GRB2 like 1, endophilin A2 |
Gene Aliases: |
CNSA1, EEN, SH3D2B, SH3P8 |
Location: |
Chr.19:4360367-4400568 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SH3GL1 | NM_001199943.1 | 9 | 1848 | NP_001186872.1 |
NM_001199944.1 | 10 | 1650 | NP_001186873.1 | |
NM_003025.3 | 10 | 1992 | NP_003016.1 | |
XM_011528183.2 | 10 | 1834 | XP_011526485.1 | |
XM_017027146.1 | 10 | 1777 | XP_016882635.1 | |
AK097616.1 | 10 | 1650 | ||
BC000089.2 | 3 | 983 | AAH00089.2 | |
BC001094.2 | 3 | 986 | AAH01094.2 | |
BC001270.1 | 10 | 1898 | AAH01270.1 | |
BC014387.2 | 3 | 986 | AAH14387.1 | |
BC098565.1 | 10 | 1923 | AAH98565.1 | |
CK820395.1 | ||||
X99656.1 | 10 | 1807 | CAA67970.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv578443 | Chr.19:4320221 - 4386355 on Build GRCh38 | Gain | SH3GL1 FSD1 STAP2 MPND |
nsv833717 | Chr.19:4204757 - 4368519 on Build GRCh38 | Loss | TMIGD2 SHD CCDC94 SH3GL1 EBI3 FSD1 ANKRD24 STAP2 MPND |
nsv833719 | Chr.19:4325245 - 4378052 on Build GRCh38 | Loss | SH3GL1 STAP2 MPND |
nsv833718 | Chr.19:4221577 - 4480248 on Build GRCh38 | Loss | SH3GL1 EBI3 CHAF1A ANKRD24 STAP2 MPND TMIGD2 SHD CCDC94 FSD1 HDGFRP2 MIR4746 UBXN6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |