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

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