Product Details

Assay Reference Genome
Location

Chr.9:132894582 on build GRCh38
Cytoband
9q34.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
7248
Gene Symbol
TSC1
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 Location Protein ID
TSC1 NM_000368.4 23 5382 NP_000359.1
NM_001162426.1 23 5379 NP_001155898.1
NM_001162427.1 22 5229 NP_001155899.1
XM_005272211.1 23 5427 XP_005272268.1
XM_006717271.1 23 5362 XP_006717334.1
XM_011518979.2 23 5376 XP_011517281.1
XM_017015096.1 24 5841 XP_016870585.1
XM_017015097.1 24 5812 XP_016870586.1
XM_017015098.1 23 5424 XP_016870587.1
XM_017015099.1 22 5520 XP_016870588.1
XM_017015100.1 22 5491 XP_016870589.1
XM_017015101.1 22 5518 XP_016870590.1
AF013168.1 23 5369 AAC51674.1
D87683.1 10 3753 BAA13436.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv831743 Chr9:132820292 - 132982548 on Build GRCh38 Loss MIR548AW SPACA9 GFI1B AK8 TSC1
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion LOC101928525 COL5A1 COL5A1-AS1 CELP DBH-AS1 MIR3689A SNORD36A ABO C9orf116 SARDH LINC00094 SURF4 MIR3689D2 RPL7A SNORD141A SURF2 LOC401557 REXO4 FCN2 RNU6ATAC LCN1 OBP2B LOC100996574 OLFM1 LOC101928193 GTF3C5 DBH PPP1R26 STKLD1 MIR6877 MIR3689D1 C9orf62 WDR5 FCN1 TMEM8C MED22 MIR3689C MIR3689E SLC2A6 BRD3 RALGDS ADAMTS13 MIR4669 LOC105376306 MIR3689B MRPS2 CEL PPP1R26-AS1 SPACA9 GFI1B SURF6 AK8 TSC1 ADAMTSL2 SNORD36C VAV2 SNORD24 SURF1 GBGT1 CACFD1 FAM163B MIR548AW MIR3689F SNORD36B RXRA LOC101448202 LOC100130548
esv3621927 Chr9:132885654 - 132894812 on Build GRCh38 Gain SPACA9 TSC1

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