RPS27A ribosomal protein S27a

Information
Symbol
RPS27A
Type
protein-coding
Description
ribosomal protein S27a
Entrez Gene ID
6233
Genome
hg19
Position
chr2:55,459,814-55,462,891
Genome
hg38
Position
chr2:55,232,678-55,235,755
MIM
191343 OMIM
HGNC
HGNC:10417 HGNC
Ensembl
ENSG00000143947 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 22
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
34
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 :
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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 CEP80
SYNONYM HEL112
SYNONYM S27A
SYNONYM UBA80
SYNONYM UBC
SYNONYM UBCEP1
SYNONYM UBCEP80
SYNONYM eS31
MIM 191343 OMIM
HGNC HGNC:10417 HGNC
Ensembl ENSG00000143947 Ensembl
AllianceGenome HGNC:10417
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000404735.1 hg38 chr2 55,232,678 55,235,755 3,078
ENST00000272317.11 hg38 chr2 55,232,688 55,235,853 3,166
ENST00000402285.7 hg38 chr2 55,231,903 55,235,588 3,686
ENST00000402285.7 hg19 chr2 55,459,039 55,462,724 3,686
ENST00000404735.1 hg19 chr2 55,459,814 55,462,891 3,078
ENST00000272317.11 hg19 chr2 55,459,824 55,462,989 3,166
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