SNRPD2 small nuclear ribonucleoprotein D2 polypeptide

Information
Symbol
SNRPD2
Type
protein-coding
Description
small nuclear ribonucleoprotein D2 polypeptide
Entrez Gene ID
6633
Genome
hg19
Position
chr19:46,190,721-46,195,574
Genome
hg38
Position
chr19:45,687,463-45,692,316
MIM
601061 OMIM
HGNC
HGNC:11159 HGNC
Ensembl
ENSG00000125743 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
6
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 :
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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 SMD2
SYNONYM SNRPD1
SYNONYM Sm-D2
MIM 601061 OMIM
HGNC HGNC:11159 HGNC
Ensembl ENSG00000125743 Ensembl
AllianceGenome HGNC:11159
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000391932.7 hg38 chr19 45,687,463 45,691,941 4,479
ENST00000342669.8 hg38 chr19 45,687,460 45,691,953 4,494
ENST00000588301.5 hg38 chr19 45,687,463 45,692,316 4,854
ENST00000588599.5 hg38 chr19 45,687,463 45,691,771 4,309
ENST00000585392.2 hg38 chr19 45,687,460 45,691,917 4,458
ENST00000590212.1 hg38 chr19 45,687,511 45,691,917 4,407
ENST00000587367.5 hg38 chr19 45,687,462 45,691,940 4,479
ENST00000585392.2 hg19 chr19 46,190,718 46,195,175 4,458
ENST00000342669.8 hg19 chr19 46,190,718 46,195,211 4,494
ENST00000587367.5 hg19 chr19 46,190,720 46,195,198 4,479
ENST00000588599.5 hg19 chr19 46,190,721 46,195,029 4,309
ENST00000391932.7 hg19 chr19 46,190,721 46,195,199 4,479
ENST00000588301.5 hg19 chr19 46,190,721 46,195,574 4,854
ENST00000590212.1 hg19 chr19 46,190,769 46,195,175 4,407
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