SNRPN small nuclear ribonucleoprotein polypeptide N

Information
Symbol
SNRPN
Type
protein-coding
Description
small nuclear ribonucleoprotein polypeptide N
Entrez Gene ID
6638
Genome
hg19
Position
chr15:25,200,095-25,223,686
Genome
hg38
Position
chr15:24,954,948-24,978,539
MIM
182279 OMIM
HGNC
HGNC:11164 HGNC
Ensembl
ENSG00000128739 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 24
Conflicting classifications of pathogenicity 0 6
not provided 2 0
Uncertain significance 0 84
Ranking
ClinVar
0
0
8
106
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 HCERN3
SYNONYM PWCR
SYNONYM RT-LI
SYNONYM SM-D
SYNONYM SMN
SYNONYM SNRNP-N
SYNONYM SNURF-SNRPN
SYNONYM sm-N
MIM 182279 OMIM
HGNC HGNC:11164 HGNC
Ensembl ENSG00000128739 Ensembl
AllianceGenome HGNC:11164
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000645002.1 hg38 chr15 24,823,725 24,978,577 154,853
ENST00000577565.1 hg38 chr15 24,955,005 24,978,548 23,544
ENST00000390687.9 hg38 chr15 24,954,987 24,978,723 23,737
ENST00000554227.6 hg38 chr15 24,954,948 24,978,539 23,592
ENST00000400097.5 hg38 chr15 24,856,551 24,978,582 122,032
ENST00000642807.1 hg38 chr15 24,823,725 24,978,583 154,859
ENST00000346403.10 hg38 chr15 24,954,935 24,978,583 23,649
ENST00000400100.5 hg38 chr15 24,823,647 24,978,582 154,936
ENST00000400100.5 hg19 chr15 25,068,794 25,223,729 154,936
ENST00000645002.1 hg19 chr15 25,068,872 25,223,724 154,853
ENST00000642807.1 hg19 chr15 25,068,872 25,223,730 154,859
ENST00000400097.5 hg19 chr15 25,101,698 25,223,729 122,032
ENST00000346403.10 hg19 chr15 25,200,082 25,223,730 23,649
ENST00000554227.6 hg19 chr15 25,200,095 25,223,686 23,592
ENST00000390687.9 hg19 chr15 25,200,134 25,223,870 23,737
ENST00000577565.1 hg19 chr15 25,200,152 25,223,695 23,544
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