SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP

Information
Symbol
SART1
Type
protein-coding
Description
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
Entrez Gene ID
9092
Genome
hg19
Position
chr11:65,729,205-65,747,608
Genome
hg38
Position
chr11:65,961,734-65,980,137
MIM
605941 OMIM
HGNC
HGNC:10538 HGNC
Ensembl
ENSG00000175467 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 104
Ranking
ClinVar
0
0
0
106
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 Ara1
SYNONYM HAF
SYNONYM HOMS1
SYNONYM SART1259
SYNONYM SNRNP110
SYNONYM Snu66
MIM 605941 OMIM
HGNC HGNC:10538 HGNC
Ensembl ENSG00000175467 Ensembl
AllianceGenome HGNC:10538
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312397.10 hg38 chr11 65,961,734 65,980,137 18,404
ENST00000312397.10 hg19 chr11 65,729,205 65,747,608 18,404
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