SMIM11 small integral membrane protein 11

Information
Symbol
SMIM11
Type
protein-coding
Description
small integral membrane protein 11
Entrez Gene ID
54065
Genome
hg19
Position
chr21:35,747,867-35,758,931
Genome
hg38
Position
chr21:34,375,568-34,386,633
HGNC
HGNC:1293 HGNC
Ensembl
ENSG00000205670 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
2
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 C21orf51
SYNONYM FAM165B
SYNONYM SMIM11A
SYNONYM SMIM11B
HGNC HGNC:1293 HGNC
Ensembl ENSG00000205670 Ensembl
AllianceGenome HGNC:1293
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000474455.1 hg38 chr21 34,375,568 34,386,633 11,066
ENST00000399299.5 hg38 chr21 34,375,500 34,402,777 27,278
ENST00000399295.2 hg38 chr21 34,375,604 34,389,153 13,550
ENST00000399292.8 hg38 chr21 34,375,507 34,389,151 13,645
ENST00000399299.5 hg19 chr21 35,747,799 35,775,075 27,277
ENST00000399292.8 hg19 chr21 35,747,806 35,761,449 13,644
ENST00000474455.1 hg19 chr21 35,747,867 35,758,931 11,065
ENST00000399295.2 hg19 chr21 35,747,903 35,761,451 13,549
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