SMIM17 small integral membrane protein 17

Information
Symbol
SMIM17
Type
protein-coding
Description
small integral membrane protein 17
Entrez Gene ID
147670
Genome
hg19
Position
chr19:57,154,527-57,168,615
Genome
hg38
Position
chr19:56,643,159-56,657,247
HGNC
HGNC:27114 HGNC
Ensembl
ENSG00000268182 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
16
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
HGNC HGNC:27114 HGNC
Ensembl ENSG00000268182 Ensembl
AllianceGenome HGNC:27114
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000598409.6 hg38 chr19 56,643,159 56,657,247 14,089
ENST00000600547.1 hg38 chr19 56,643,163 56,655,358 12,196
ENST00000598409.6 hg19 chr19 57,154,527 57,168,615 14,089
ENST00000600547.1 hg19 chr19 57,154,531 57,166,726 12,196
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