SNRNP70 small nuclear ribonucleoprotein U1 subunit 70

Information
Symbol
SNRNP70
Type
protein-coding
Description
small nuclear ribonucleoprotein U1 subunit 70
Entrez Gene ID
6625
Genome
hg19
Position
chr19:49,588,708-49,611,861
Genome
hg38
Position
chr19:49,085,451-49,108,604
MIM
180740 OMIM
HGNC
HGNC:11150 HGNC
Ensembl
ENSG00000104852 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
40
2
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 RNPU1Z
SYNONYM RPU1
SYNONYM SNRP70
SYNONYM Snp1
SYNONYM U1-70K
SYNONYM U170K
SYNONYM U1AP
SYNONYM U1RNP
MIM 180740 OMIM
HGNC HGNC:11150 HGNC
Ensembl ENSG00000104852 Ensembl
AllianceGenome HGNC:11150
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221448.9 hg38 chr19 49,085,451 49,108,563 23,113
ENST00000598441.6 hg38 chr19 49,085,451 49,108,604 23,154
ENST00000221448.9 hg19 chr19 49,588,708 49,611,820 23,113
ENST00000598441.6 hg19 chr19 49,588,708 49,611,861 23,154
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