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

Chr.16:2051661 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03951158_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 4
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
AK294548.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BX647816.1 CAI46010.1
DA316794.1
DC402106.1
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 PTX4 TPSG1 NHLRC4 RAB11FIP3 DECR2 LMF1 MIR6768 HN1L CCDC78 NTHL1 NDUFB10 LMF1-AS1 LINC00254 WASIR2 LOC105371184 MIR1225 MLST8 NPW MEIOB SNORA10 CASKIN1 IFT140 IGFALS LOC107987233 MIR6511B1 RAB26 NME3 TSR3 RPL23AP5 HBA1 MCRIP2 PRSS27 TMEM204 E4F1 METTL26 NOXO1 HS3ST6 POLR3K LOC105371046 FLJ42627 MIR6767 TPSD1 CHTF18 HAGH LOC105371047 CLCN7 CCNF WDR90 MSLN ECI1 HBA2 MIR3180-5 PRR25 ARHGDIG ABCA3 KCTD5 MRPS34 TPSB2 NARFL FBXL16 LOC100134368 NUBP2 TRAF7 AXIN1 SNORA78 DNASE1L2 RNF151 RPUSD1 PIGQ RHBDL1 MPG PRSS29P MIR6859-4 BRICD5 NME4 HBM LOC652276 SYNGR3 HBQ1 MIR3176 SOX8 PKD1 SSTR5-AS1 CRAMP1 NPRL3 MIR4717 C16orf91 MIR3677 STUB1 MRPL28 ZNF598 PGP HAGHL UBE2I TELO2 MAPK8IP3 UNKL JMJD8 PRR35 RGS11 RAB40C RPL3L LOC105371038 C1QTNF8 LUC7L TPSAB1 GNPTG CCDC154 C16orf59 MSRB1 SNHG19 LOC107984876 RHBDF1 HBZ METRN NTN3 ERVK13-1 WDR24 PDPK1 RNPS1 FAHD1 DDX11L10 MIR5587 PDIA2 LINC00235 MIR4516 EME2 SNRNP25 ABCA17P RPS2 MIR3177 GFER ATP6V0C SSTR5 LOC105371049 SNORA64 BAIAP3 TBC1D24 TBL3 FAM173A LOC106660606 SNHG9 RHOT2 GNG13 LOC105371045 MIR940 CEMP1 AMDHD2 TMEM8A SNORD60 LOC101929280 SPSB3 MIR662 CAPN15 MIR3178 LOC100287175 TSC2 SLC9A3R2 FAM234A CACNA1H LOC729652 WFIKKN1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3677 ZNF598 RNPS1 PGP ECI1 MIR4516 NTHL1 MIR3180-5 ABCA3 GFER MIR1225 MLST8 NPW LOC105371049 CASKIN1 MIR6511B1 TRAF7 TBL3 LOC106660606 RAB26 DNASE1L2 MIR940 SNORD60 BRICD5 TSC2 SNHG19 SYNGR3 SLC9A3R2 PKD1 E4F1 NOXO1 MIR4717
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion HS3ST6 RPL3L SNORA78 SNHG9 ZNF598 RNF151 MIR4516 NTHL1 NDUFB10 RPS2 MSRB1 TSC2 GFER MIR1225 SYNGR3 SLC9A3R2 PKD1 NPW LOC105371049 SNORA10 MIR6511B1 SNORA64 NOXO1 TBL3
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA78 SNHG9 ZNF598 RNF151 NTHL1 NDUFB10 RPS2 TSC2 GFER MIR1225 SYNGR3 SLC9A3R2 PKD1 NPW LOC105371049 SNORA10 MIR6511B1 SNORA64 NOXO1 TBL3

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