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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 | 7755 | NP_000359.1 |
NM_001162426.1 | 23 | 7752 | NP_001155898.1 | |
NM_001162427.1 | 22 | 7602 | NP_001155899.1 | |
XM_005272211.1 | 23 | 7800 | XP_005272268.1 | |
XM_006717271.1 | 23 | 7735 | XP_006717334.1 | |
XM_011518979.2 | 23 | 7749 | XP_011517281.1 | |
XM_017015096.1 | 24 | 8214 | XP_016870585.1 | |
XM_017015097.1 | 24 | 8185 | XP_016870586.1 | |
XM_017015098.1 | 23 | 7797 | XP_016870587.1 | |
XM_017015099.1 | 22 | 7893 | XP_016870588.1 | |
XM_017015100.1 | 22 | 7864 | XP_016870589.1 | |
XM_017015101.1 | 22 | 7891 | XP_016870590.1 | |
AF013168.1 | 23 | 7742 | AAC51674.1 | |
D87683.1 | 10 | 6126 | BAA13436.1 |
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 AK8 SPACA9 MIR548AW TSC1 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | FAM163B SPACA9 LOC101928193 ABO RXRA TSC1 GBGT1 PPP1R26 RPL7A MIR3689D1 DBH-AS1 RALGDS LOC100996574 SURF6 CELP LOC101928525 SLC2A6 MIR6877 WDR5 GTF3C5 SURF2 OBP2B C9orf62 C9orf116 BRD3 MIR3689E LOC101448202 MRPS2 FCN2 CACFD1 MIR3689C REXO4 MIR3689B SNORD36A SURF4 SNORD36B ADAMTSL2 SNORD141A MIR3689D2 LOC401557 GFI1B AK8 TMEM8C CEL SARDH DBH MIR548AW MIR4669 SURF1 SNORD36C OLFM1 SNORD24 VAV2 STKLD1 LINC00094 COL5A1 PPP1R26-AS1 COL5A1-AS1 MIR3689F LOC100130548 RNU6ATAC FCN1 MIR3689A ADAMTS13 LCN1 MED22 LOC105376306 |
esv3621927 | Chr.9:132885654 - 132894812 on Build GRCh38 | Gain | SPACA9 TSC1 |
Set Membership: |
Intragenic Exonic DGV Variation |