SMS spermine synthase

Information
Symbol
SMS
Type
protein-coding
Description
spermine synthase
Entrez Gene ID
6611
Genome
hg19
Position
chrX:21,958,827-22,012,955
Genome
hg38
Position
chrX:21,940,709-21,994,837
MIM
300105 OMIM
HGNC
HGNC:11123 HGNC
Ensembl
ENSG00000102172 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 28
Benign 0 60
Likely benign 0 52
Conflicting classifications of pathogenicity 0 14
not provided 7 2
Uncertain significance 0 102
Ranking
ClinVar
0
0
26
216
14
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 MRSR
SYNONYM MRXSSR
SYNONYM SPMSY
SYNONYM SRS
SYNONYM SpS
MIM 300105 OMIM
HGNC HGNC:11123 HGNC
Ensembl ENSG00000102172 Ensembl
AllianceGenome HGNC:11123
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000404933.7 hg38 chrX 21,940,709 21,994,837 54,129
ENST00000379404.5 hg38 chrX 21,940,715 21,994,473 53,759
ENST00000404933.7 hg19 chrX 21,958,827 22,012,955 54,129
ENST00000379404.5 hg19 chrX 21,958,833 22,012,591 53,759
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