Product Details

Assay Reference Genome
Location

Chr.9:132892068 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 7896 NP_000359.1
NM_001162426.1 23 7893 NP_001155898.1
NM_001162427.1 22 7743 NP_001155899.1
XM_005272211.1 23 7941 XP_005272268.1
XM_006717271.1 23 7876 XP_006717334.1
XM_011518979.2 23 7890 XP_011517281.1
XM_017015096.1 24 8355 XP_016870585.1
XM_017015097.1 24 8326 XP_016870586.1
XM_017015098.1 23 7938 XP_016870587.1
XM_017015099.1 22 8034 XP_016870588.1
XM_017015100.1 22 8005 XP_016870589.1
XM_017015101.1 22 8032 XP_016870590.1
AF013168.1 23 7883 AAC51674.1
D87683.1 10 6267 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 AK8 SPACA9 GFI1B TSC1 MIR548AW
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion AK8 SNORD36B LOC101448202 WDR5 REXO4 SNORD36A FCN1 OBP2B MIR4669 GBGT1 FCN2 COL5A1-AS1 PPP1R26 VAV2 SURF1 GFI1B PPP1R26-AS1 GTF3C5 MIR548AW MIR3689B RPL7A SLC2A6 MIR3689D1 C9orf62 COL5A1 MIR3689E FAM163B MRPS2 ABO SURF2 CELP MIR3689C MIR3689F SNORD36C SARDH SNORD24 ADAMTSL2 LOC100130548 LOC100996574 LINC00094 MIR6877 CEL BRD3 MIR3689A ADAMTS13 RNU6ATAC TSC1 RALGDS LOC401557 STKLD1 DBH-AS1 CACFD1 C9orf116 LOC105376306 OLFM1 RXRA MIR3689D2 SPACA9 DBH MED22 LOC101928525 LOC101928193 TMEM8C SURF6 SURF4 SNORD141A LCN1
esv3621927 Chr9:132885654 - 132894812 on Build GRCh38 Gain SPACA9 TSC1

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