PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2

Information
Symbol
PRPSAP2
Type
protein-coding
Description
phosphoribosyl pyrophosphate synthetase associated protein 2
Entrez Gene ID
5636
Genome
hg19
Position
chr17:18,761,444-18,834,600
Genome
hg38
Position
chr17:18,858,131-18,931,287
MIM
603762 OMIM
HGNC
HGNC:9467 HGNC
Ensembl
ENSG00000141127 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 2 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
16
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 :
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 PAP41
MIM 603762 OMIM
HGNC HGNC:9467 HGNC
Ensembl ENSG00000141127 Ensembl
AllianceGenome HGNC:9467
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000268835.7 hg38 chr17 18,858,131 18,931,287 73,157
ENST00000419071.6 hg38 chr17 18,856,353 18,930,994 74,642
ENST00000542013.5 hg38 chr17 18,865,549 18,930,734 65,186
ENST00000536323.5 hg38 chr17 18,858,068 18,931,287 73,220
ENST00000610773.4 hg38 chr17 18,856,299 18,931,287 74,989
ENST00000628609.1 hg38 chr17 18,865,549 18,867,281 1,733
ENST00000268835.7 hg19 chr17 18,761,444 18,834,600 73,157
ENST00000419071.6 hg19 chr17 18,759,666 18,834,307 74,642
ENST00000542013.5 hg19 chr17 18,768,862 18,834,047 65,186
ENST00000628609.1 hg19 chr17 18,768,862 18,770,594 1,733
ENST00000536323.5 hg19 chr17 18,761,381 18,834,600 73,220
ENST00000610773.4 hg19 chr17 18,759,612 18,834,600 74,989
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