Assay Details
Target Gene Details
Entrez Gene ID: | 6491 |
Gene Name: | SCL/TAL1 interrupting locus |
Gene Aliases: |
MCPH7, SIL |
Location: |
Chr.1:47250139-47314787 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STIL | NM_001048166.1 | 17 | 4110 | NP_001041631.1 |
NM_001282936.1 | 18 | 4316 | NP_001269865.1 | |
NM_001282937.1 | 18 | 4265 | NP_001269866.1 | |
NM_001282938.1 | 19 | 4178 | NP_001269867.1 | |
NM_001282939.1 | 19 | 3989 | NP_001269868.1 | |
NM_003035.2 | 17 | 4107 | NP_003026.2 | |
XM_011541996.2 | 18 | 3969 | XP_011540298.1 | |
XM_011542001.2 | 16 | 3859 | XP_011540303.1 | |
XM_017002123.1 | 18 | 3966 | XP_016857612.1 | |
XM_017002124.1 | 13 | 3386 | XP_016857613.1 | |
AK098445.1 | 1 | 813 | ||
BC126223.1 | 17 | 4183 | ||
BC144089.1 | 17 | 4132 | ||
CR749851.1 | 17 | 4086 | CAH18699.1 | |
M74558.1 | 18 | 4332 | AAA60550.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822531 | Chr.1:47248220 - 47264411 on Build GRCh38 | Gain |
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nsv1160846 | Chr.1:47249998 - 47266706 on Build GRCh38 | Duplication |
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nsv441692 | Chr.1:47247989 - 47263416 on Build GRCh38 | Gain |
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esv3578138 | Chr.1:47247976 - 47263403 on Build GRCh38 | Gain |
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esv3585954 | Chr.1:47248325 - 47258549 on Build GRCh38 | Gain |
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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)