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

Chr.16:2053919 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03935752_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 5
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 4 901
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BF194994.1
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 3 803
KJ535039.1
KJ535051.1 3 803
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 FAM173A NTN3 NPRL3 SOX8 METTL26 PKD1 HAGH MLST8 IFT140 SNORD60 HS3ST6 METRN TRAF7 HAGHL POLR3K LOC106660606 WASIR2 SNHG9 LMF1 LOC105371184 LUC7L MIR3177 LOC107984876 RPL3L PRR35 CCDC154 ABCA3 ABCA17P LOC105371046 TPSAB1 MIR3176 TPSB2 RNPS1 PDPK1 AXIN1 MIR6511B1 RPUSD1 LOC105371038 IGFALS MIR662 CHTF18 TELO2 ECI1 RHBDL1 LOC105371047 HBA1 LOC652276 HBA2 WFIKKN1 MIR6767 FAHD1 MAPK8IP3 MIR5587 NHLRC4 CACNA1H AMDHD2 TPSD1 SNORA10 LMF1-AS1 MSLN NME3 SPSB3 FLJ42627 TBC1D24 NPW BRICD5 SSTR5 SNRNP25 MPG NUBP2 LOC107987233 NARFL UBE2I NTHL1 PRSS27 LOC101929280 CLCN7 MIR4516 ERVK13-1 MIR3178 GFER MIR940 MCRIP2 MIR4717 MIR3677 UNKL NDUFB10 RHOT2 RAB26 KCTD5 CAPN15 LINC00235 GNPTG DDX11L10 MEIOB MRPL28 CCDC78 WDR24 BAIAP3 CCNF TBL3 PRR25 SLC9A3R2 DNASE1L2 LOC105371045 TSC2 CASKIN1 GNG13 LOC100134368 STUB1 CEMP1 RNF151 RPL23AP5 PIGQ TMEM8A PTX4 HN1L C16orf59 MIR6859-4 HBZ FAM234A MSRB1 SNORA64 PDIA2 LOC729652 ATP6V0C TSR3 JMJD8 EME2 WDR90 LOC100287175 RAB11FIP3 FBXL16 DECR2 LOC105371049 MIR6768 PGP RHBDF1 SYNGR3 RPS2 HBQ1 MIR3180-5 LINC00254 SNHG19 TMEM204 RAB40C RGS11 MIR1225 CRAMP1 E4F1 HBM NOXO1 PRSS29P C16orf91 TPSG1 NME4 SNORA78 SSTR5-AS1 MRPS34 C1QTNF8 ZNF598 ARHGDIG
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3677 ECI1 RAB26 PKD1 MLST8 SNORD60 TRAF7 LOC106660606 LOC105371049 PGP TBL3 SLC9A3R2 SYNGR3 NPW MIR3180-5 BRICD5 DNASE1L2 SNHG19 TSC2 CASKIN1 MIR1225 ABCA3 E4F1 NOXO1 NTHL1 RNPS1 MIR4516 GFER MIR940 ZNF598 MIR6511B1 MIR4717
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MSRB1 SNORA64 SLC9A3R2 SYNGR3 RPS2 NPW RPL3L NDUFB10 TSC2 MIR1225 PKD1 NOXO1 NTHL1 RNF151 HS3ST6 SNORA78 MIR4516 SNORA10 GFER LOC105371049 SNHG9 ZNF598 MIR6511B1 TBL3
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA64 SLC9A3R2 SYNGR3 RPS2 NPW NDUFB10 TSC2 MIR1225 PKD1 NOXO1 NTHL1 RNF151 SNORA78 SNORA10 GFER LOC105371049 SNHG9 ZNF598 MIR6511B1 TBL3

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