ACER2 alkaline ceramidase 2

Information
Symbol
ACER2
Type
protein-coding
Description
alkaline ceramidase 2
Entrez Gene ID
340485
Genome
hg19
Position
chr9:19,409,007-19,452,503
Genome
hg38
Position
chr9:19,409,009-19,452,505
MIM
613492 OMIM
HGNC
HGNC:23675 HGNC
Ensembl
ENSG00000177076 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 44
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
[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 ALKCDase2
SYNONYM ASAH3L
MIM 613492 OMIM
HGNC HGNC:23675 HGNC
Ensembl ENSG00000177076 Ensembl
AllianceGenome HGNC:23675
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340967.3 hg38 chr9 19,409,009 19,452,505 43,497
ENST00000340967.3 hg19 chr9 19,409,007 19,452,503 43,497
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