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Gene Symbol
DMTN
Assay Reference Genome
Location

Chr.8:22052070 on build GRCh38
Cytoband
8p21.3
Assay ID Hs03680517_cn
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Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 2039

Gene Name:

 dematin actin binding protein

Gene Aliases:

 DMT, EPB49

Location:

 Chr.8:22048955-22082527 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
DMTN NM_001323382.1 NP_001310311.1
NM_001323397.1 NP_001310326.1
XM_005273442.1 XP_005273499.1
BI547589.1
HY024046.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv465613 Chr.8:22046701 - 22197835 on Build GRCh38 Loss BMP1 NUDT18 SFTPC HR LGI3 DMTN FGF17 REEP4 FAM160B2
nsv528590 Chr.8:22034428 - 22168131 on Build GRCh38 Loss BMP1 NUDT18 SFTPC HR LGI3 DMTN NPM2 FGF17 REEP4 FAM160B2
nsv610764 Chr.8:22031342 - 22094715 on Build GRCh38 Loss DMTN NPM2 FGF17 FAM160B2
nsv610765 Chr.8:22043573 - 22149780 on Build GRCh38 Loss NUDT18 HR LGI3 DMTN FGF17 REEP4 FAM160B2
nsv951112 Chr.8:22023690 - 22135287 on Build GRCh38 Deletion NUDT18 HR DMTN NPM2 FGF17 FAM160B2
nsv831263 Chr.8:22031088 - 22184413 on Build GRCh38 Loss BMP1 NUDT18 SFTPC HR LGI3 DMTN NPM2 FGF17 REEP4 FAM160B2
dgv12054n54 Chr.8:22045805 - 22251098 on Build GRCh38 Loss POLR3D BMP1 MIR320A NUDT18 SFTPC PHYHIP HR LGI3 DMTN FGF17 REEP4 FAM160B2
esv2759604 Chr.8:20675533 - 23254096 on Build GRCh38 Loss LOC101929237 EGR3 NUDT18 TNFRSF10A LOC102467222 C8orf58 TNFRSF10D PDLIM2 DOK2 LOC389641 RHOBTB2 FGF17 CCAR2 LOC286059 PEBP4 BIN3 SFTPC TNFRSF10C GFRA2 LOC101929172 FAM160B2 SLC39A14 POLR3D LOC286114 SORBS3 BMP1 MIR320A PHYHIP HR LOC107986876 LOC100507071 LOC107984124 BIN3-IT1 LOC254896 PIWIL2 XPO7 PPP3CC LGI3 DMTN CHMP7 NPM2 REEP4 TNFRSF10B

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More Information


Additional Information:

For this assay, SNP(s) [rs375410610,rs75026812] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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