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

Chr.16:2052698 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03926943_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 MRPL28 NUBP2 METRN GFER ATP6V0C LOC105371046 TPSAB1 RPUSD1 ABCA17P LOC101929280 METTL26 RPL3L SNORA78 RPL23AP5 LMF1-AS1 RAB40C CRAMP1 SNORD60 TSC2 CASKIN1 TPSD1 LOC105371047 MIR3176 MSLN HAGH CCNF NME3 CCDC154 PTX4 TMEM204 DNASE1L2 EME2 GNPTG DECR2 NPRL3 LOC100134368 FAHD1 NPW SNHG9 FAM173A FAM234A LINC00254 IFT140 LOC105371045 POLR3K MIR3180-5 RPS2 TBC1D24 NOXO1 CEMP1 RAB11FIP3 WDR90 C16orf91 LOC729652 SLC9A3R2 SNORA10 SNHG19 FBXL16 SPSB3 MLST8 PGP WASIR2 MIR662 MEIOB RGS11 TPSG1 AXIN1 PKD1 HBM IGFALS ERVK13-1 PDPK1 TMEM8A LOC100287175 RHBDF1 MIR6859-4 MIR3677 TRAF7 RAB26 MIR3178 NARFL MIR4516 GNG13 CACNA1H FLJ42627 LOC652276 HBZ MIR5587 MIR4717 SSTR5 NTN3 ZNF598 UNKL STUB1 PDIA2 ECI1 BAIAP3 ARHGDIG MIR3177 PIGQ TSR3 CLCN7 RNF151 CCDC78 BRICD5 NME4 LINC00235 MIR1225 JMJD8 HBQ1 PRR35 CHTF18 CAPN15 MIR6511B1 TBL3 LOC105371184 LUC7L HBA1 NHLRC4 TPSB2 NTHL1 DDX11L10 ABCA3 NDUFB10 SSTR5-AS1 LOC107984876 LOC106660606 C1QTNF8 SNORA64 RHOT2 LMF1 SOX8 TELO2 MRPS34 PRSS29P LOC105371049 MIR940 C16orf59 SNRNP25 HBA2 HAGHL KCTD5 UBE2I WDR24 PRSS27 LOC107987233 MCRIP2 PRR25 HS3ST6 MPG AMDHD2 E4F1 MSRB1 RNPS1 WFIKKN1 LOC105371038 HN1L MIR6768 RHBDL1 MIR6767 MAPK8IP3 SYNGR3
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR3677 TRAF7 RAB26 NTHL1 GFER ABCA3 MIR4516 MIR3180-5 LOC106660606 NOXO1 MIR4717 ZNF598 LOC105371049 SLC9A3R2 MIR940 ECI1 SNHG19 MLST8 PGP BRICD5 SNORD60 TSC2 CASKIN1 MIR1225 E4F1 PKD1 RNPS1 DNASE1L2 NPW MIR6511B1 TBL3 SYNGR3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion RNF151 TSC2 NTHL1 GFER MIR4516 HS3ST6 NDUFB10 MIR1225 RPS2 SNORA64 NOXO1 MSRB1 PKD1 ZNF598 LOC105371049 SLC9A3R2 NPW SNHG9 SNORA10 RPL3L MIR6511B1 TBL3 SNORA78 SYNGR3
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion RNF151 TSC2 NTHL1 GFER NDUFB10 MIR1225 RPS2 SNORA64 NOXO1 PKD1 ZNF598 LOC105371049 SLC9A3R2 NPW SNHG9 SNORA10 MIR6511B1 TBL3 SNORA78 SYNGR3

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