Product Details

Assay Reference Genome
Location

Chr.9:132895041 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 4923 NP_000359.1
NM_001162426.1 23 4920 NP_001155898.1
NM_001162427.1 22 4770 NP_001155899.1
XM_005272211.1 23 4968 XP_005272268.1
XM_006717271.1 23 4903 XP_006717334.1
XM_011518979.2 23 4917 XP_011517281.1
XM_017015096.1 24 5382 XP_016870585.1
XM_017015097.1 24 5353 XP_016870586.1
XM_017015098.1 23 4965 XP_016870587.1
XM_017015099.1 22 5061 XP_016870588.1
XM_017015100.1 22 5032 XP_016870589.1
XM_017015101.1 22 5059 XP_016870590.1
AF013168.1 23 4910 AAC51674.1
D87683.1 10 3294 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 GFI1B TSC1 AK8 SPACA9
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion MIR3689D2 MIR3689D1 CEL MIR3689B LOC101448202 MRPS2 PPP1R26 RPL7A SNORD36B DBH RNU6ATAC SARDH MIR548AW OBP2B FCN2 WDR5 TSC1 COL5A1-AS1 DBH-AS1 VAV2 C9orf62 STKLD1 SURF2 OLFM1 ADAMTS13 MIR3689A ADAMTSL2 GBGT1 LINC00094 SURF4 TMEM8C CACFD1 LOC101928193 MIR3689C SURF1 REXO4 MIR4669 PPP1R26-AS1 SNORD36C BRD3 RXRA SPACA9 CELP C9orf116 MED22 FCN1 MIR6877 LOC101928525 MIR3689E COL5A1 LOC100996574 SURF6 GTF3C5 LOC100130548 RALGDS LOC401557 MIR3689F FAM163B SNORD24 SLC2A6 LOC105376306 ABO GFI1B SNORD141A SNORD36A AK8 LCN1

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