Product Details

Assay Reference Genome
Location

Chr.9:132898330 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 Intron 22
Gene Symbol Transcript Accession Exon Location Assay 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

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 AK8 MIR548AW SPACA9 GFI1B TSC1
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion MIR3689C SNORD24 MIR3689D1 RPL7A MRPS2 REXO4 CEL FAM163B MIR3689E MIR548AW MED22 SNORD36C ADAMTSL2 SURF2 ADAMTS13 MIR4669 MIR3689A SLC2A6 SNORD141A SURF1 MIR3689D2 SURF6 COL5A1 CACFD1 RNU6ATAC LOC401557 C9orf116 MIR3689F PPP1R26 RXRA CELP MIR6877 VAV2 LOC101928193 LINC00094 LOC101448202 AK8 COL5A1-AS1 MIR3689B GTF3C5 TMEM8C TSC1 WDR5 DBH SARDH C9orf62 LOC100996574 FCN2 ABO STKLD1 LCN1 GBGT1 LOC100130548 SNORD36B SPACA9 BRD3 OBP2B SURF4 FCN1 GFI1B DBH-AS1 LOC101928525 LOC105376306 OLFM1 SNORD36A RALGDS PPP1R26-AS1

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