SMIM3 small integral membrane protein 3

Information
Symbol
SMIM3
Type
protein-coding
Description
small integral membrane protein 3
Entrez Gene ID
85027
Genome
hg19
Position
chr5:150,158,367-150,176,296
Genome
hg38
Position
chr5:150,778,805-150,796,734
MIM
608324 OMIM
HGNC
HGNC:30248 HGNC
Ensembl
ENSG00000256235 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
20
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 C5orf62
SYNONYM MST150
SYNONYM NID67
MIM 608324 OMIM
HGNC HGNC:30248 HGNC
Ensembl ENSG00000256235 Ensembl
AllianceGenome HGNC:30248
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000526627.2 hg38 chr5 150,778,757 150,796,734 17,978
ENST00000648745.1 hg38 chr5 150,778,805 150,796,734 17,930
ENST00000526627.2 hg19 chr5 150,158,319 150,176,296 17,978
ENST00000648745.1 hg19 chr5 150,158,367 150,176,296 17,930
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