SIAE sialic acid acetylesterase

Information
Symbol
SIAE
Type
protein-coding
Description
sialic acid acetylesterase
Entrez Gene ID
54414
Genome
hg19
Position
chr11:124,503,009-124,543,635
Genome
hg38
Position
chr11:124,633,113-124,673,739
MIM
610079 OMIM
HGNC
HGNC:18187 HGNC
Ensembl
ENSG00000110013 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 44
Likely benign 0 246
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 486
Ranking
ClinVar
0
0
52
722
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 AIS6
SYNONYM CSE-C
SYNONYM CSEC
SYNONYM LSE
SYNONYM YSG2
MIM 610079 OMIM
HGNC HGNC:18187 HGNC
Ensembl ENSG00000110013 Ensembl
AllianceGenome HGNC:18187
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000618733.4 hg38 chr11 124,636,847 124,676,303 39,457
ENST00000545756.5 hg38 chr11 124,635,789 124,675,679 39,891
ENST00000263593.8 hg38 chr11 124,633,113 124,673,739 40,627
ENST00000263593.8 hg19 chr11 124,503,009 124,543,635 40,627
ENST00000545756.5 hg19 chr11 124,505,685 124,545,575 39,891
ENST00000618733.4 hg19 chr11 124,506,743 124,546,199 39,457
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