SNRPB small nuclear ribonucleoprotein polypeptides B and B1

Information
Symbol
SNRPB
Type
protein-coding
Description
small nuclear ribonucleoprotein polypeptides B and B1
Entrez Gene ID
6628
Genome
hg19
Position
chr20:2,442,280-2,451,499
Genome
hg38
Position
chr20:2,461,634-2,470,853
MIM
182282 OMIM
HGNC
HGNC:11153 HGNC
Ensembl
ENSG00000125835 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 10
Likely pathogenic 0 8
Benign 0 26
Likely benign 0 90
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 82
Ranking
ClinVar
0
0
14
192
10
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 :
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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 CCMS
SYNONYM COD
SYNONYM SNRPB1
SYNONYM Sm-B/B'
SYNONYM SmB/B'
SYNONYM SmB/SmB'
SYNONYM snRNP-B
MIM 182282 OMIM
HGNC HGNC:11153 HGNC
Ensembl ENSG00000125835 Ensembl
AllianceGenome HGNC:11153
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381342.7 hg38 chr20 2,461,642 2,470,789 9,148
ENST00000438552.6 hg38 chr20 2,461,634 2,470,853 9,220
ENST00000438552.6 hg19 chr20 2,442,280 2,451,499 9,220
ENST00000381342.7 hg19 chr20 2,442,288 2,451,435 9,148
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