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Entrez Gene ID: | 7248 |
Gene Name: | tuberous sclerosis 1 |
Gene Aliases: |
LAM, TSC |
Location: |
Chr.9:132891348-132945269 on Build GRCh38 |
Assay Gene Location: | Within Intron 12 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TSC1 | NM_000368.4 | NP_000359.1 | ||
| NM_001162426.1 | NP_001155898.1 | |||
| NM_001162427.1 | NP_001155899.1 | |||
| XM_005272211.1 | XP_005272268.1 | |||
| XM_006717271.1 | XP_006717334.1 | |||
| XM_011518979.2 | XP_011517281.1 | |||
| XM_017015096.1 | XP_016870585.1 | |||
| XM_017015097.1 | XP_016870586.1 | |||
| XM_017015098.1 | XP_016870587.1 | |||
| XM_017015099.1 | XP_016870588.1 | |||
| XM_017015100.1 | XP_016870589.1 | |||
| XM_017015101.1 | XP_016870590.1 | |||
| AB190910.1 | BAD91314.1 | |||
| AF013168.1 | AAC51674.1 | |||
| AK297326.1 | ||||
| AK299654.1 | ||||
| AK303030.1 | ||||
| AK308412.1 | ||||
| BC047772.2 | 10 | 1331 | AAH47772.1 | |
| BC070032.1 | 10 | 1359 | AAH70032.1 | |
| BC108668.1 | AAI08669.1 | |||
| BC121000.2 | 10 | 1315 | ||
| KJ534953.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion |
|
| nsv831743 | Chr.9:132820292 - 132982548 on Build GRCh38 | Loss |
|
Set Membership: |
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