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

Chr.16:2064600 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03930753_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 17
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
AK022401.1 1 1288
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BX647816.1 CAI46010.1
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 NARFL BRICD5 ECI1 MAPK8IP3 TPSD1 CAPN15 IGFALS TPSAB1 MLST8 PRR35 CHTF18 LINC00254 HBM POLR3K TMEM8A PIGQ LOC105371047 PKD1 HAGH MSRB1 MSLN RAB26 MIR3180-5 MIR6859-4 SNRNP25 WDR24 NUBP2 SNHG9 UBE2I ABCA3 NOXO1 LINC00235 CCNF PRR25 RGS11 SOX8 MIR4516 C1QTNF8 IFT140 LOC105371038 LOC106660606 RHBDL1 LOC105371045 LOC107984876 EME2 DNASE1L2 ARHGDIG TSR3 CRAMP1 STUB1 MIR662 MIR3177 AXIN1 SLC9A3R2 MIR3677 RPS2 LOC729652 MIR940 DECR2 TRAF7 FLJ42627 CCDC154 PDPK1 HBQ1 TPSG1 C16orf59 MIR1225 SPSB3 NTN3 MIR3178 WASIR2 LOC105371049 WDR90 UNKL NPRL3 MIR3176 RPL3L SSTR5 LMF1 RNF151 FBXL16 RHOT2 MRPL28 GNG13 MPG BAIAP3 C16orf91 JMJD8 TBC1D24 RPUSD1 SSTR5-AS1 HN1L RAB40C MIR6767 PTX4 RAB11FIP3 MCRIP2 TPSB2 DDX11L10 AMDHD2 RPL23AP5 GFER NDUFB10 HS3ST6 LUC7L NPW PRSS27 FAM234A CACNA1H ERVK13-1 MIR6768 HAGHL WFIKKN1 PRSS29P SNORA64 MIR6511B1 PDIA2 LOC101929280 E4F1 MIR4717 HBZ NTHL1 TBL3 METTL26 NHLRC4 CCDC78 MRPS34 LMF1-AS1 CASKIN1 FAM173A TELO2 LOC100287175 SNORA10 ZNF598 MEIOB TMEM204 METRN ABCA17P SNORD60 NME4 RHBDF1 LOC652276 FAHD1 CEMP1 SYNGR3 RNPS1 LOC100134368 HBA2 GNPTG LOC105371184 CLCN7 LOC105371046 LOC107987233 PGP KCTD5 ATP6V0C SNHG19 HBA1 MIR5587 NME3 TSC2 SNORA78
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss GFER SYNGR3 ZNF598 NPW NOXO1 TSC2 NTHL1 TBL3 SLC9A3R2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SYNGR3 RPL3L SNHG9 SNORA64 NOXO1 RNF151 MIR6511B1 SLC9A3R2 SNORA10 RPS2 MIR4516 GFER NDUFB10 HS3ST6 ZNF598 NPW TSC2 PKD1 NTHL1 TBL3 MSRB1 MIR1225 SNORA78 LOC105371049
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SYNGR3 SNHG9 SNORA64 NOXO1 RNF151 MIR6511B1 SLC9A3R2 SNORA10 RPS2 GFER NDUFB10 ZNF598 NPW TSC2 PKD1 NTHL1 TBL3 MIR1225 SNORA78 LOC105371049
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss RAB26 MIR3180-5 TRAF7 SNHG19 CASKIN1 TSC2 PKD1 MIR6511B1 SNORD60 MIR1225 MIR4516 LOC105371049

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