SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1

Information
Symbol
SMUG1
Type
protein-coding
Description
single-strand-selective monofunctional uracil-DNA glycosylase 1
Entrez Gene ID
23583
Genome
hg19
Position
chr12:54,574,150-54,582,769
Genome
hg38
Position
chr12:54,180,366-54,188,985
MIM
607753 OMIM
HGNC
HGNC:17148 HGNC
Ensembl
ENSG00000123415 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM FDG
SYNONYM HMUDG
SYNONYM UNG3
MIM 607753 OMIM
HGNC HGNC:17148 HGNC
Ensembl ENSG00000123415 Ensembl
AllianceGenome HGNC:17148
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000243112.9 hg38 chr12 54,181,471 54,188,976 7,506
ENST00000513838.5 hg38 chr12 54,180,358 54,188,957 8,600
ENST00000506595.5 hg38 chr12 54,181,453 54,188,607 7,155
ENST00000505128.5 hg38 chr12 54,181,457 54,188,972 7,516
ENST00000514196.5 hg38 chr12 54,182,072 54,188,980 6,909
ENST00000682136.1 hg38 chr12 54,180,366 54,188,985 8,620
ENST00000337581.7 hg38 chr12 54,181,468 54,188,974 7,507
ENST00000401977.6 hg38 chr12 54,181,954 54,188,622 6,669
ENST00000508394.6 hg38 chr12 54,181,275 54,188,994 7,720
ENST00000514685.5 hg38 chr12 54,181,453 54,188,940 7,488
ENST00000243112.9 hg19 chr12 54,575,255 54,582,760 7,506
ENST00000401977.6 hg19 chr12 54,575,738 54,582,406 6,669
ENST00000505128.5 hg19 chr12 54,575,241 54,582,756 7,516
ENST00000337581.7 hg19 chr12 54,575,252 54,582,758 7,507
ENST00000506595.5 hg19 chr12 54,575,237 54,582,391 7,155
ENST00000508394.6 hg19 chr12 54,575,059 54,582,778 7,720
ENST00000514685.5 hg19 chr12 54,575,237 54,582,724 7,488
ENST00000514196.5 hg19 chr12 54,575,856 54,582,764 6,909
ENST00000513838.5 hg19 chr12 54,574,142 54,582,741 8,600
ENST00000682136.1 hg19 chr12 54,574,150 54,582,769 8,620
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