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See other NTHL1 CNV Assays ›
Gene Symbol
NTHL1
Assay Reference Genome
Location

Chr.16:2047840 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00698259_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 4913

Gene Name:

 nth-like DNA glycosylase 1

Gene Aliases:

 FAP3, NTH1, OCTS3, hNTH1

Location:

 Chr.16:2039815-2047872 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NTHL1 NM_001318193.1 NP_001305122.1
NM_001318194.1 NP_001305123.1
NM_002528.6 NP_002519.1
XM_017023253.1 XP_016878742.1
AB001575.1 BAA19413.1
BC000391.2 AAH00391.2
BC003014.1 AAH03014.1
HY057336.1
HY094895.1
U79718.1 AAB41534.1
U81285.1 AAC51136.1
Y09687.1 CAA70865.1

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:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 XM_011522638.2 XP_011520940.2
XM_017023617.1 XP_016879106.1

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

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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