SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27

Information
Symbol
SNRNP27
Type
protein-coding
Description
small nuclear ribonucleoprotein U4/U6.U5 subunit 27
Entrez Gene ID
11017
Genome
hg19
Position
chr2:70,121,088-70,132,368
Genome
hg38
Position
chr2:69,893,956-69,905,236
MIM
619629 OMIM
HGNC
HGNC:30240 HGNC
Ensembl
ENSG00000124380 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 8
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
[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 27K
SYNONYM RY1
MIM 619629 OMIM
HGNC HGNC:30240 HGNC
Ensembl ENSG00000124380 Ensembl
AllianceGenome HGNC:30240
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000244227.8 hg38 chr2 69,893,956 69,905,236 11,281
ENST00000409116.5 hg38 chr2 69,893,959 69,905,218 11,260
ENST00000244227.8 hg19 chr2 70,121,088 70,132,368 11,281
ENST00000409116.5 hg19 chr2 70,121,091 70,132,350 11,260
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