SNRPA small nuclear ribonucleoprotein polypeptide A

Information
Symbol
SNRPA
Type
protein-coding
Description
small nuclear ribonucleoprotein polypeptide A
Entrez Gene ID
6626
Genome
hg19
Position
chr19:41,257,108-41,271,294
Genome
hg38
Position
chr19:40,751,203-40,765,389
MIM
182285 OMIM
HGNC
HGNC:11151 HGNC
Ensembl
ENSG00000077312 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 4
Likely benign 0 12
Uncertain significance 0 28
Ranking
ClinVar
0
0
2
44
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 :
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 Mud1
SYNONYM U1-A
SYNONYM U1A
MIM 182285 OMIM
HGNC HGNC:11151 HGNC
Ensembl ENSG00000077312 Ensembl
AllianceGenome HGNC:11151
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000243563.8 hg38 chr19 40,751,203 40,765,389 14,187
ENST00000243563.8 hg19 chr19 41,257,108 41,271,294 14,187
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