SAT1 spermidine/spermine N1-acetyltransferase 1

Information
Symbol
SAT1
Type
protein-coding
Description
spermidine/spermine N1-acetyltransferase 1
Entrez Gene ID
6303
Genome
hg19
Position
chrX:23,801,290-23,804,327
Genome
hg38
Position
chrX:23,783,173-23,786,210
MIM
313020 OMIM
HGNC
HGNC:10540 HGNC
Ensembl
ENSG00000130066 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 6 0
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
8
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
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 DC21
SYNONYM KFSD
SYNONYM KFSDX
SYNONYM SAT
SYNONYM SSAT
SYNONYM SSAT-1
MIM 313020 OMIM
HGNC HGNC:10540 HGNC
Ensembl ENSG00000130066 Ensembl
AllianceGenome HGNC:10540
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379254.5 hg38 chrX 23,783,173 23,786,113 2,941
ENST00000379270.5 hg38 chrX 23,783,173 23,786,210 3,038
ENST00000379254.5 hg19 chrX 23,801,290 23,804,230 2,941
ENST00000379270.5 hg19 chrX 23,801,290 23,804,327 3,038
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