SKA3 spindle and kinetochore associated complex subunit 3

Information
Symbol
SKA3
Type
protein-coding
Description
spindle and kinetochore associated complex subunit 3
Entrez Gene ID
221150
Genome
hg19
Position
chr13:21,727,734-21,750,691
Genome
hg38
Position
chr13:21,153,595-21,176,552
MIM
619247 OMIM
HGNC
HGNC:20262 HGNC
Ensembl
ENSG00000165480 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
36
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 C13orf3
SYNONYM RAMA1
MIM 619247 OMIM
HGNC HGNC:20262 HGNC
Ensembl ENSG00000165480 Ensembl
AllianceGenome HGNC:20262
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000400018.7 hg38 chr13 21,153,595 21,176,547 22,953
ENST00000314759.6 hg38 chr13 21,153,595 21,176,552 22,958
ENST00000400018.7 hg19 chr13 21,727,734 21,750,686 22,953
ENST00000314759.6 hg19 chr13 21,727,734 21,750,691 22,958
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