SNAPC2 small nuclear RNA activating complex polypeptide 2

Information
Symbol
SNAPC2
Type
protein-coding
Description
small nuclear RNA activating complex polypeptide 2
Entrez Gene ID
6618
Genome
hg19
Position
chr19:7,985,223-7,988,135
Genome
hg38
Position
chr19:7,920,338-7,923,250
MIM
605076 OMIM
HGNC
HGNC:11135 HGNC
Ensembl
ENSG00000104976 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
Uncertain significance 0 68
Ranking
ClinVar
0
0
0
78
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 PTFDELTA
SYNONYM SNAP45
MIM 605076 OMIM
HGNC HGNC:11135 HGNC
Ensembl ENSG00000104976 Ensembl
AllianceGenome HGNC:11135
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221573.11 hg38 chr19 7,920,338 7,923,250 2,913
ENST00000597584.5 hg38 chr19 7,921,015 7,923,250 2,236
ENST00000221573.11 hg19 chr19 7,985,223 7,988,135 2,913
ENST00000597584.5 hg19 chr19 7,985,900 7,988,135 2,236
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