SMCO2 single-pass membrane protein with coiled-coil domains 2

Information
Symbol
SMCO2
Type
protein-coding
Description
single-pass membrane protein with coiled-coil domains 2
Entrez Gene ID
341346
Genome
hg19
Position
chr12:27,599,669-27,655,118
Genome
hg38
Position
chr12:27,446,736-27,502,185
HGNC
HGNC:34448 HGNC
Ensembl
ENSG00000165935 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 1 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
48
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
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 C12orf70
HGNC HGNC:34448 HGNC
Ensembl ENSG00000165935 Ensembl
AllianceGenome HGNC:34448
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000298876.8 hg38 chr12 27,466,810 27,502,185 35,376
ENST00000698358.1 hg38 chr12 27,446,745 27,502,185 55,441
ENST00000535986.2 hg38 chr12 27,446,736 27,502,185 55,450
ENST00000535986.2 hg19 chr12 27,599,669 27,655,118 55,450
ENST00000698358.1 hg19 chr12 27,599,678 27,655,118 55,441
ENST00000298876.8 hg19 chr12 27,619,743 27,655,118 35,376
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