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 | 2314 | NP_001186872.1 |
NM_001199944.1 | 10 | 2116 | NP_001186873.1 | |
NM_003025.3 | 10 | 2458 | NP_003016.1 | |
XM_011528183.2 | 10 | 2300 | XP_011526485.1 | |
XM_017027146.1 | 10 | 2243 | XP_016882635.1 | |
AK097616.1 | 10 | 2116 | ||
BC000089.2 | 3 | 1449 | AAH00089.2 | |
BC001094.2 | 3 | 1452 | AAH01094.2 | |
BC001270.1 | 10 | 2364 | AAH01270.1 | |
BC014387.2 | 3 | 1452 | AAH14387.1 | |
BC098565.1 | 10 | 2389 | AAH98565.1 | |
CK820395.1 | 1 | 102 | ||
X99656.1 | 10 | 2273 | 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 |
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nsv833717 | Chr.19:4204757 - 4368519 on Build GRCh38 | Loss |
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nsv833719 | Chr.19:4325245 - 4378052 on Build GRCh38 | Loss |
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nsv833718 | Chr.19:4221577 - 4480248 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)