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

Chr.16:2067946 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03925312_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 18
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
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 SNORA10 SSTR5 BRICD5 LOC105371045 PRSS27 CCDC154 RPL3L EME2 NUBP2 SSTR5-AS1 RAB11FIP3 TPSG1 ARHGDIG METTL26 MIR3177 DECR2 IGFALS CAPN15 MIR4717 ABCA17P RPL23AP5 FAM234A MIR3677 LOC105371047 SNORA64 C16orf59 TPSD1 MIR6767 GFER LOC100134368 LMF1-AS1 CHTF18 LUC7L MRPS34 CRAMP1 PRSS29P LOC100287175 MIR3180-5 HS3ST6 RNF151 MIR940 NME3 UBE2I UNKL TRAF7 MLST8 TMEM8A NPW TSC2 METRN LOC105371038 BAIAP3 MIR3176 WFIKKN1 SNRNP25 LOC106660606 LINC00254 FAHD1 PDIA2 TMEM204 GNG13 RHOT2 HBA1 LMF1 HN1L MEIOB PDPK1 CCNF MSRB1 FBXL16 MIR6768 PRR25 HAGHL ERVK13-1 RHBDL1 MIR1225 SYNGR3 MAPK8IP3 KCTD5 GNPTG CACNA1H TBC1D24 E4F1 MPG HAGH LOC729652 RAB26 RHBDF1 PRR35 TBL3 HBM LOC652276 SNHG9 FLJ42627 SOX8 LINC00235 RGS11 TPSAB1 LOC105371049 STUB1 PGP LOC107987233 MIR6859-4 MRPL28 NTHL1 CEMP1 SNORD60 DDX11L10 LOC101929280 NDUFB10 LOC105371046 ABCA3 SLC9A3R2 MSLN MIR5587 TPSB2 PIGQ NTN3 RPS2 MIR4516 PTX4 MCRIP2 JMJD8 HBA2 WDR24 C1QTNF8 TSR3 MIR3178 CASKIN1 SNORA78 IFT140 MIR662 ZNF598 HBQ1 FAM173A NOXO1 RNPS1 HBZ ECI1 NHLRC4 NARFL AMDHD2 RAB40C POLR3K AXIN1 RPUSD1 SPSB3 WASIR2 CLCN7 C16orf91 NME4 PKD1 NPRL3 MIR6511B1 LOC105371184 TELO2 SNHG19 WDR90 CCDC78 ATP6V0C DNASE1L2 LOC107984876
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss ZNF598 TBL3 NTHL1 NOXO1 SYNGR3 GFER SLC9A3R2 NPW TSC2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR1225 RPS2 SNORA64 LOC105371049 SYNGR3 SNORA10 MIR4516 RPL3L GFER NPW TSC2 MSRB1 SNORA78 PKD1 MIR6511B1 ZNF598 TBL3 NTHL1 NOXO1 NDUFB10 SNHG9 SLC9A3R2 HS3ST6 RNF151
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 RPS2 SNORA64 LOC105371049 SYNGR3 SNORA10 GFER NPW TSC2 SNORA78 PKD1 MIR6511B1 ZNF598 TBL3 NTHL1 NOXO1 NDUFB10 SNHG9 SLC9A3R2 RNF151
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR1225 LOC105371049 SNORD60 TRAF7 MIR4516 SNHG19 MIR3180-5 TSC2 CASKIN1 PKD1 RAB26 MIR6511B1

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