SMIM30 small integral membrane protein 30

Information
Symbol
SMIM30
Type
protein-coding
Description
small integral membrane protein 30
Entrez Gene ID
401397
Genome
hg19
Position
chr7:112,756,773-112,758,609
Genome
hg38
Position
chr7:113,116,718-113,118,554
HGNC
HGNC:48953 HGNC
Ensembl
ENSG00000214194 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Ranking
ClinVar
0
0
0
0
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 LINC00998
SYNONYM MAVI1
HGNC HGNC:48953 HGNC
Ensembl ENSG00000214194 Ensembl
AllianceGenome HGNC:48953
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000441359.1 hg38 chr7 113,116,861 113,118,560 1,700
ENST00000397764.8 hg38 chr7 113,116,718 113,118,554 1,837
ENST00000397764.8 hg19 chr7 112,756,773 112,758,609 1,837
ENST00000441359.1 hg19 chr7 112,756,916 112,758,615 1,700
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