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

Chr.16:2063439 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03943866_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 16
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 1 127
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 GNPTG SNORA78 MIR6767 MEIOB GFER NHLRC4 PDIA2 PKD1 NDUFB10 SSTR5 SNHG19 HS3ST6 LOC729652 UBE2I NME4 PRR35 CACNA1H LOC101929280 TPSD1 MRPS34 LINC00254 WFIKKN1 SLC9A3R2 HBA2 BRICD5 HN1L LOC100287175 METRN NARFL MIR662 HBM PIGQ RNF151 LOC105371046 METTL26 JMJD8 TPSB2 EME2 LOC105371047 SNRNP25 SSTR5-AS1 LOC107984876 WDR24 ZNF598 RAB11FIP3 AMDHD2 POLR3K RAB40C MRPL28 RHBDF1 MIR3677 HAGH HBQ1 RPL23AP5 E4F1 DECR2 MPG LOC105371038 HBZ RAB26 TSC2 SNORA64 MIR3178 CCNF TELO2 CCDC78 PDPK1 RPS2 RPL3L MIR940 TPSAB1 MAPK8IP3 MIR6768 RNPS1 NME3 PGP MIR3180-5 PRSS29P MIR1225 SOX8 KCTD5 MLST8 LUC7L RHOT2 MIR6511B1 CHTF18 LMF1 IFT140 MIR4717 NPW TMEM204 GNG13 PRR25 AXIN1 FLJ42627 LOC105371045 PRSS27 RHBDL1 HBA1 SNHG9 CCDC154 CAPN15 CASKIN1 TSR3 LINC00235 FAM173A MIR5587 LOC100134368 LMF1-AS1 BAIAP3 RGS11 FAHD1 SNORD60 ECI1 LOC105371049 MIR3177 FBXL16 FAM234A HAGHL SYNGR3 MIR6859-4 TBC1D24 CLCN7 RPUSD1 TPSG1 CRAMP1 WASIR2 C16orf91 TMEM8A LOC652276 DNASE1L2 C16orf59 ERVK13-1 CEMP1 NUBP2 LOC105371184 NPRL3 SPSB3 C1QTNF8 WDR90 SNORA10 ATP6V0C TRAF7 LOC106660606 PTX4 DDX11L10 ARHGDIG UNKL NTN3 MIR4516 MSRB1 IGFALS ABCA17P MCRIP2 MIR3176 LOC107987233 NTHL1 STUB1 NOXO1 ABCA3 TBL3 MSLN
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss SLC9A3R2 ZNF598 NTHL1 GFER SYNGR3 NOXO1 NPW TBL3 TSC2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SNORA78 RPS2 SLC9A3R2 ZNF598 GFER RPL3L MIR4516 PKD1 LOC105371049 NPW MSRB1 NDUFB10 RNF151 HS3ST6 NTHL1 MIR1225 SYNGR3 NOXO1 SNHG9 SNORA10 TBL3 TSC2 SNORA64 MIR6511B1
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA78 RPS2 SLC9A3R2 ZNF598 GFER PKD1 LOC105371049 NPW NDUFB10 RNF151 NTHL1 MIR1225 SYNGR3 NOXO1 SNHG9 SNORA10 TBL3 TSC2 SNORA64 MIR6511B1
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR3180-5 SNORD60 MIR1225 MIR4516 PKD1 RAB26 LOC105371049 CASKIN1 TSC2 MIR6511B1 TRAF7 SNHG19

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