SNF8 SNF8 subunit of ESCRT-II

Information
Symbol
SNF8
Type
protein-coding
Description
SNF8 subunit of ESCRT-II
Entrez Gene ID
11267
Genome
hg19
Position
chr17:47,006,678-47,022,204
Genome
hg38
Position
chr17:48,929,316-48,944,842
MIM
610904 OMIM
HGNC
HGNC:17028 HGNC
Ensembl
ENSG00000159210 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
28
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 :
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 DEE115
SYNONYM Dot3
SYNONYM EAP30
SYNONYM NEDOA
SYNONYM VPS22
MIM 610904 OMIM
HGNC HGNC:17028 HGNC
Ensembl ENSG00000159210 Ensembl
AllianceGenome HGNC:17028
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000502492.6 hg38 chr17 48,929,316 48,944,842 15,527
ENST00000290330.7 hg38 chr17 48,930,374 48,944,810 14,437
ENST00000502492.6 hg19 chr17 47,006,678 47,022,204 15,527
ENST00000290330.7 hg19 chr17 47,007,736 47,022,172 14,437
Genome browser