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Search Thermo Fisher Scientific
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 Exon 25 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSC1 | NM_000368.4 | 23 | 3535 | NP_000359.1 |
NM_001162426.1 | 23 | 3532 | NP_001155898.1 | |
NM_001162427.1 | 22 | 3382 | NP_001155899.1 | |
XM_005272211.1 | 23 | 3580 | XP_005272268.1 | |
XM_006717271.1 | 23 | 3515 | XP_006717334.1 | |
XM_011518979.2 | 23 | 3529 | XP_011517281.1 | |
XM_017015096.1 | 24 | 3994 | XP_016870585.1 | |
XM_017015097.1 | 24 | 3965 | XP_016870586.1 | |
XM_017015098.1 | 23 | 3577 | XP_016870587.1 | |
XM_017015099.1 | 22 | 3673 | XP_016870588.1 | |
XM_017015100.1 | 22 | 3644 | XP_016870589.1 | |
XM_017015101.1 | 22 | 3671 | XP_016870590.1 | |
AF013168.1 | 23 | 3522 | AAC51674.1 | |
AK299654.1 | 9 | 1157 | ||
AK303030.1 | 22 | 3365 | ||
D87683.1 | 10 | 1906 | BAA13436.1 | |
KJ534953.1 | 21 | 3301 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831743 | Chr.9:132820292 - 132982548 on Build GRCh38 | Loss | SPACA9 GFI1B MIR548AW AK8 TSC1 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | LOC101928525 MIR548AW MIR3689A SURF2 TSC1 MIR3689C SARDH C9orf62 COL5A1-AS1 MED22 DBH COL5A1 RALGDS LOC100996574 PPP1R26 C9orf116 GFI1B GBGT1 GTF3C5 MRPS2 VAV2 CACFD1 ADAMTS13 RPL7A OLFM1 MIR3689D1 FAM163B FCN2 RXRA CEL MIR4669 WDR5 CELP SNORD141A SLC2A6 LOC401557 SNORD36A SURF1 ABO TMEM8C AK8 STKLD1 MIR3689F LINC00094 SPACA9 SURF6 PPP1R26-AS1 FCN1 MIR3689D2 LOC101448202 LOC100130548 MIR3689B SURF4 LOC105376306 MIR6877 MIR3689E ADAMTSL2 LOC101928193 SNORD36B REXO4 LCN1 BRD3 SNORD24 OBP2B SNORD36C DBH-AS1 RNU6ATAC |
Set Membership: |
Intragenic Exonic DGV Variation |