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See other TSC2 CNV Assays ›
Gene Symbol
TSC2
Assay Reference Genome
Location

Chr.16:2072613 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03943957_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 7249

Gene Name:

 tuberous sclerosis 2

Gene Aliases:

 LAM, PPP1R160, TSC4

Location:

 Chr.16:2047804-2088720 on Build GRCh38

Assay Gene Location:

 Within Intron 22
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 NM_000548.4 NP_000539.2
NM_001077183.2 NP_001070651.1
NM_001114382.2 NP_001107854.1
NM_001318827.1 NP_001305756.1
NM_001318829.1 NP_001305758.1
NM_001318831.1 NP_001305760.1
NM_001318832.1 NP_001305761.1
XM_005255529.4 XP_005255586.2
XM_005255531.4 XP_005255588.2
XM_011522636.2 XP_011520938.1
XM_011522637.2 XP_011520939.1
XM_011522638.2 XP_011520940.2
XM_011522639.2 XP_011520941.1
XM_011522640.2 XP_011520942.1
XM_017023615.1 XP_016879104.1
XM_017023616.1 XP_016879105.1
XM_017023617.1 XP_016879106.1
XM_017023618.1 XP_016879107.1
AB210000.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BX647816.1 CAI46010.1
DB288276.1
KJ534954.1
KJ534955.1
KJ534956.1
KJ534957.1
KJ534958.1
KJ534982.1
KJ534983.1
KJ534984.1
KJ534985.1
KJ535011.1
KJ535022.1
KJ535038.1
KJ535039.1
KJ535051.1
KJ535091.1
KJ535094.1
X75621.1 CAA53287.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication FBXL16 CEMP1 SSTR5 LMF1-AS1 CRAMP1 MIR6768 ZNF598 C16orf59 GFER MIR4516 CCDC78 TPSB2 CLCN7 LOC101929280 KCTD5 SPSB3 RAB40C LUC7L IGFALS MCRIP2 LOC105371047 NME3 PTX4 PGP AXIN1 IFT140 RAB26 CCDC154 MEIOB POLR3K FAHD1 SNRNP25 LOC100134368 RGS11 MIR6859-4 NPW WASIR2 CCNF HBM TPSD1 RAB11FIP3 TMEM204 WDR24 BAIAP3 NPRL3 MIR5587 TPSG1 LOC105371045 EME2 DNASE1L2 LOC105371038 HS3ST6 NDUFB10 MPG SNHG19 MRPS34 LOC105371046 CHTF18 NTHL1 LOC107984876 AMDHD2 SNORD60 TPSAB1 FLJ42627 METRN NHLRC4 MIR4717 TMEM8A LOC107987233 MRPL28 NOXO1 HBA1 STUB1 LINC00235 MLST8 UBE2I HN1L TELO2 MIR3180-5 TBL3 DDX11L10 MIR662 SLC9A3R2 ECI1 MIR3178 LINC00254 LOC105371184 TSR3 ERVK13-1 MIR3177 ATP6V0C LMF1 RPL23AP5 CAPN15 NME4 HAGH NARFL SNORA10 FAM234A RPUSD1 RPL3L LOC729652 MSRB1 HBA2 DECR2 MAPK8IP3 CACNA1H METTL26 BRICD5 LOC105371049 MIR1225 PRR25 LOC652276 MIR940 RPS2 ARHGDIG PRSS29P LOC100287175 RHBDF1 GNG13 WFIKKN1 RHBDL1 PDPK1 MIR6767 HAGHL GNPTG SSTR5-AS1 LOC106660606 TBC1D24 RNPS1 C1QTNF8 WDR90 SNORA64 PIGQ SYNGR3 HBQ1 RHOT2 NTN3 PRR35 PKD1 TRAF7 UNKL ABCA3 CASKIN1 PDIA2 NUBP2 JMJD8 HBZ C16orf91 MIR3176 MIR6511B1 TSC2 MIR3677 PRSS27 E4F1 SNORA78 SOX8 SNHG9 MSLN FAM173A ABCA17P RNF151
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3180-5 TBL3 SLC9A3R2 ECI1 LOC106660606 RNPS1 ZNF598 GFER MIR4516 SYNGR3 PKD1 TRAF7 DNASE1L2 ABCA3 CASKIN1 SNHG19 NTHL1 MIR6511B1 SNORD60 TSC2 MIR3677 E4F1 MIR4717 PGP BRICD5 LOC105371049 MIR1225 NOXO1 RAB26 MIR940 MLST8 NPW
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SNORA10 TBL3 NTHL1 MIR6511B1 RPL3L SLC9A3R2 MSRB1 TSC2 SNORA64 ZNF598 GFER MIR4516 LOC105371049 SYNGR3 SNORA78 MIR1225 NOXO1 PKD1 RPS2 SNHG9 HS3ST6 NDUFB10 RNF151 NPW
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA10 TBL3 NTHL1 MIR6511B1 SLC9A3R2 TSC2 SNORA64 ZNF598 GFER LOC105371049 SYNGR3 SNORA78 MIR1225 NOXO1 PKD1 RPS2 SNHG9 NDUFB10 RNF151 NPW
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR4516 LOC105371049 SNHG19 MIR3180-5 MIR1225 RAB26 PKD1 MIR6511B1 TRAF7 SNORD60 CASKIN1 TSC2
esv3581937 Chr.16:2072340 - 2074457 on Build GRCh38 Loss TSC2

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