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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: | Overlaps Intron 24 - Exon 25 |
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 | |||
AF013168.1 | AAC51674.1 | |||
AK299654.1 | ||||
AK303030.1 | ||||
AK308412.1 | ||||
D87683.1 | BAA13436.1 | |||
KJ534953.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831743 | Chr.9:132820292 - 132982548 on Build GRCh38 | Loss | GFI1B TSC1 AK8 MIR548AW SPACA9 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | LOC101928193 TSC1 C9orf116 BRD3 TMEM8C OBP2B SURF6 SLC2A6 RXRA ABO MIR3689C MIR3689D1 LOC101448202 LOC401557 MIR3689E MIR3689D2 CELP COL5A1-AS1 CEL SNORD36A STKLD1 COL5A1 SNORD141A RALGDS PPP1R26-AS1 MIR4669 C9orf62 WDR5 SNORD36B FCN1 LINC00094 MED22 MIR6877 MIR3689B GBGT1 FCN2 REXO4 GFI1B GTF3C5 DBH AK8 OLFM1 SPACA9 MIR3689A LOC100130548 FAM163B LOC101928525 MIR3689F SURF4 LCN1 SURF2 PPP1R26 ADAMTS13 SARDH VAV2 RPL7A CACFD1 MRPS2 RNU6ATAC DBH-AS1 LOC105376306 MIR548AW LOC100996574 SURF1 SNORD24 SNORD36C ADAMTSL2 |
Set Membership: |
Intragenic Non-exonic DGV Variation |