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

Chr.16:2070888 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03920722_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 19
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 ABCA17P MRPL28 SYNGR3 ECI1 TPSD1 SNORA78 WDR24 C16orf91 NTN3 BRICD5 MIR3178 ZNF598 PDIA2 NPRL3 C16orf59 RPL3L FAHD1 SLC9A3R2 SNRNP25 SNORD60 WFIKKN1 TRAF7 SOX8 NUBP2 WASIR2 DNASE1L2 MIR1225 LMF1-AS1 CCDC154 SSTR5 PRSS29P MIR3177 RGS11 HS3ST6 NME3 GNG13 TBL3 RNF151 TMEM204 KCTD5 RHBDL1 ABCA3 PRSS27 LOC105371049 LOC107984876 MIR940 SNORA64 RPL23AP5 AMDHD2 POLR3K LOC105371038 RHOT2 DECR2 TPSG1 MIR3677 MIR6859-4 LOC652276 AXIN1 UNKL MSRB1 WDR90 HN1L NHLRC4 MPG IGFALS E4F1 FLJ42627 RHBDF1 LUC7L MIR4516 DDX11L10 ATP6V0C HBZ TPSB2 CHTF18 PDPK1 TSR3 RPUSD1 GNPTG TSC2 PKD1 CAPN15 MIR6768 LOC107987233 LMF1 TPSAB1 SPSB3 FAM234A PTX4 PIGQ NME4 IFT140 METTL26 CRAMP1 NDUFB10 C1QTNF8 NOXO1 NTHL1 HBA2 ARHGDIG FAM173A MIR6511B1 CLCN7 GFER LOC105371046 PRR35 NPW CCDC78 MAPK8IP3 LINC00235 HBM LINC00254 STUB1 UBE2I PGP RPS2 TBC1D24 FBXL16 MCRIP2 LOC729652 JMJD8 SNHG9 MIR5587 CEMP1 LOC100287175 MIR3180-5 ERVK13-1 MIR662 MRPS34 MIR4717 EME2 HBA1 PRR25 SNORA10 CASKIN1 HAGH LOC101929280 BAIAP3 RAB26 MLST8 RNPS1 HAGHL RAB40C SSTR5-AS1 TMEM8A CCNF MIR3176 TELO2 RAB11FIP3 LOC105371047 LOC100134368 MSLN METRN HBQ1 MEIOB LOC105371184 LOC105371045 MIR6767 NARFL SNHG19 LOC106660606 CACNA1H
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3180-5 PKD1 SYNGR3 TBL3 MIR4717 ABCA3 CASKIN1 ECI1 LOC105371049 RAB26 NOXO1 MLST8 NTHL1 RNPS1 MIR6511B1 MIR940 BRICD5 ZNF598 GFER NPW MIR3677 SLC9A3R2 SNORD60 E4F1 TRAF7 PGP DNASE1L2 MIR1225 SNHG19 MIR4516 LOC106660606 TSC2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion HS3ST6 PKD1 SYNGR3 TBL3 RNF151 RPL3L SNORA10 MSRB1 SLC9A3R2 LOC105371049 NDUFB10 SNORA78 RPS2 MIR1225 NOXO1 NTHL1 MIR4516 MIR6511B1 SNHG9 SNORA64 ZNF598 GFER NPW TSC2
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion PKD1 SYNGR3 TBL3 RNF151 SNORA10 SLC9A3R2 LOC105371049 NDUFB10 SNORA78 RPS2 MIR1225 NOXO1 NTHL1 MIR6511B1 SNHG9 SNORA64 ZNF598 GFER NPW TSC2
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR3180-5 TRAF7 RAB26 PKD1 MIR1225 SNHG19 MIR4516 MIR6511B1 CASKIN1 SNORD60 LOC105371049 TSC2

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