SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48

Information
Symbol
SNRNP48
Type
protein-coding
Description
small nuclear ribonucleoprotein U11/U12 subunit 48
Entrez Gene ID
154007
Genome
hg19
Position
chr6:7,590,431-7,612,200
Genome
hg38
Position
chr6:7,590,198-7,611,967
HGNC
HGNC:21368 HGNC
Ensembl
ENSG00000168566 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
42
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 C6orf151
SYNONYM dJ336K20B.1
SYNONYM dJ512B11.2
HGNC HGNC:21368 HGNC
Ensembl ENSG00000168566 Ensembl
AllianceGenome HGNC:21368
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342415.6 hg38 chr6 7,590,198 7,611,967 21,770
ENST00000342415.6 hg19 chr6 7,590,431 7,612,200 21,770
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