Assay Details
Target Gene Details
Entrez Gene ID: | 6456 |
Gene Name: | SH3 domain containing GRB2 like 2, endophilin A1 |
Gene Aliases: |
CNSA2, EEN-B1, SH3D2A, SH3P4 |
Location: |
Chr.9:17578954-17797129 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SH3GL2 | NM_003026.3 | NP_003017.1 | ||
AB206840.1 | BAE44459.1 | |||
AF036268.1 | AAC04764.1 | |||
AK057744.1 | ||||
AK293546.1 | ||||
AK293592.1 | ||||
AK312400.1 | ||||
BC032825.2 | AAH32825.1 | |||
BT019682.1 | AAV38488.1 | |||
CR542086.1 | CAG46883.1 | |||
CR542102.1 | CAG46899.1 | |||
DC309737.1 | ||||
X99657.1 | CAA67971.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv26279 | Chr.9:17581148 - 17634286 on Build GRCh38 | Gain | SH3GL2 |
dgv7466n100 | Chr.9:17577143 - 17636676 on Build GRCh38 | Gain | SH3GL2 |
esv3573159 | Chr.9:17506784 - 17662496 on Build GRCh38 | Loss | CNTLN SH3GL2 |
esv2422265 | Chr.9:17396713 - 17598189 on Build GRCh38 | Duplication | CNTLN SH3GL2 |
dgv12581n54 | Chr.9:17583312 - 17633234 on Build GRCh38 | Gain | SH3GL2 |
esv2764160 | Chr.9:17581424 - 17636676 on Build GRCh38 | Gain | SH3GL2 |
dgv2139e212 | Chr.9:17585653 - 17633234 on Build GRCh38 | Gain | SH3GL2 |
nsv466269 | Chr.9:17165700 - 17710409 on Build GRCh38 | Gain | CNTLN SH3GL2 |
nsv613693 | Chr.9:17147193 - 17710409 on Build GRCh38 | Gain | CNTLN SH3GL2 |
dgv1457e214 | Chr.9:17581661 - 17636018 on Build GRCh38 | Gain | SH3GL2 |
nsv517380 | Chr.9:17564269 - 17633234 on Build GRCh38 | Gain+Loss | SH3GL2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |