SMIM6 small integral membrane protein 6

Information
Symbol
SMIM6
Type
protein-coding
Description
small integral membrane protein 6
Entrez Gene ID
100130933
Genome
hg19
Position
chr17:73,642,331-73,644,054
Genome
hg38
Position
chr17:75,646,251-75,647,974
MIM
620531 OMIM
HGNC
HGNC:40032 HGNC
Ensembl
ENSG00000259120 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
8
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 C17orf110
SYNONYM ELN
MIM 620531 OMIM
HGNC HGNC:40032 HGNC
Ensembl ENSG00000259120 Ensembl
AllianceGenome HGNC:40032
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000579469.2 hg38 chr17 75,646,251 75,647,974 1,724
ENST00000556126.2 hg38 chr17 75,646,243 75,647,975 1,733
ENST00000556126.2 hg19 chr17 73,642,323 73,644,055 1,733
ENST00000579469.2 hg19 chr17 73,642,331 73,644,054 1,724
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