SMPD2 sphingomyelin phosphodiesterase 2

Information
Symbol
SMPD2
Type
protein-coding
Description
sphingomyelin phosphodiesterase 2
Entrez Gene ID
6610
Genome
hg19
Position
chr6:109,761,927-109,765,122
Genome
hg38
Position
chr6:109,440,724-109,443,919
MIM
603498 OMIM
HGNC
HGNC:11121 HGNC
Ensembl
ENSG00000135587 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
52
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 ISC1
SYNONYM NSMASE
SYNONYM NSMASE1
MIM 603498 OMIM
HGNC HGNC:11121 HGNC
Ensembl ENSG00000135587 Ensembl
AllianceGenome HGNC:11121
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258052.8 hg38 chr6 109,440,724 109,443,919 3,196
ENST00000258052.8 hg19 chr6 109,761,927 109,765,122 3,196
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