USE1 unconventional SNARE in the ER 1

Information
Symbol
USE1
Type
protein-coding
Description
unconventional SNARE in the ER 1
Entrez Gene ID
55850
Genome
hg19
Position
chr19:17,326,166-17,330,638
Genome
hg38
Position
chr19:17,215,357-17,219,829
MIM
610675 OMIM
HGNC
HGNC:30882 HGNC
Ensembl
ENSG00000053501 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
32
0
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 :
Search word :
Filtering :
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 D12
SYNONYM MDS032
SYNONYM P31
SYNONYM SLT1
MIM 610675 OMIM
HGNC HGNC:30882 HGNC
Ensembl ENSG00000053501 Ensembl
AllianceGenome HGNC:30882
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000595101.5 hg38 chr19 17,215,388 17,218,826 3,439
ENST00000596136.5 hg38 chr19 17,215,390 17,219,829 4,440
ENST00000263897.10 hg38 chr19 17,215,357 17,219,829 4,473
ENST00000263897.10 hg19 chr19 17,326,166 17,330,638 4,473
ENST00000595101.5 hg19 chr19 17,326,197 17,329,635 3,439
ENST00000596136.5 hg19 chr19 17,326,199 17,330,638 4,440
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