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 Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SH3GL1 | NM_001199943.1 | NP_001186872.1 | ||
NM_001199944.1 | NP_001186873.1 | |||
NM_003025.3 | NP_003016.1 | |||
XM_011528183.2 | XP_011526485.1 | |||
XM_017027146.1 | XP_016882635.1 | |||
AK097616.1 | ||||
AK299166.1 | ||||
AK315450.1 | ||||
AY364240.1 | AAQ76799.1 | |||
BC001270.1 | AAH01270.1 | |||
BC098565.1 | AAH98565.1 | |||
BU838380.1 | ||||
CR542087.1 | CAG46884.1 | |||
U65999.1 | AAB86800.1 | |||
X99656.1 | CAA67970.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833720 | Chr.19:4367721 - 4540556 on Build GRCh38 | Loss | MIR4746 HDGFRP2 CHAF1A PLIN4 PLIN5 UBXN6 LRG1 SH3GL1 |
esv3643501 | Chr.19:4365368 - 4390241 on Build GRCh38 | Gain | SH3GL1 |
nsv578443 | Chr.19:4320221 - 4386355 on Build GRCh38 | Gain | FSD1 SH3GL1 MPND STAP2 |
nsv833717 | Chr.19:4204757 - 4368519 on Build GRCh38 | Loss | EBI3 FSD1 ANKRD24 SH3GL1 MPND STAP2 CCDC94 TMIGD2 SHD |
nsv833719 | Chr.19:4325245 - 4378052 on Build GRCh38 | Loss | SH3GL1 MPND STAP2 |
nsv833718 | Chr.19:4221577 - 4480248 on Build GRCh38 | Loss | HDGFRP2 CHAF1A EBI3 UBXN6 ANKRD24 CCDC94 TMIGD2 MIR4746 FSD1 SH3GL1 MPND STAP2 SHD |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |