UGP2 UDP-glucose pyrophosphorylase 2

Information
Symbol
UGP2
Type
protein-coding
Description
UDP-glucose pyrophosphorylase 2
Entrez Gene ID
7360
Genome
hg19
Position
chr2:64,069,030-64,118,694
Genome
hg38
Position
chr2:63,841,896-63,891,560
MIM
191760 OMIM
HGNC
HGNC:12527 HGNC
Ensembl
ENSG00000169764 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 4
Likely benign 0 12
Uncertain significance 0 38
Ranking
ClinVar
0
0
2
54
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 DEE83
SYNONYM EIEE83
SYNONYM SVUGP2
SYNONYM UDPG
SYNONYM UDPGP
SYNONYM UDPGP2
SYNONYM UGP1
SYNONYM UGPP1
SYNONYM UGPP2
SYNONYM pHC379
MIM 191760 OMIM
HGNC HGNC:12527 HGNC
Ensembl ENSG00000169764 Ensembl
AllianceGenome HGNC:12527
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000394417.7 hg38 chr2 63,840,969 63,891,560 50,592
ENST00000445915.6 hg38 chr2 63,842,325 63,891,561 49,237
ENST00000613823.2 hg38 chr2 63,840,998 63,891,502 50,505
ENST00000467648.6 hg38 chr2 63,840,969 63,891,451 50,483
ENST00000626380.2 hg38 chr2 63,842,102 63,857,594 15,493
ENST00000337130.10 hg38 chr2 63,841,896 63,891,560 49,665
ENST00000677841.1 hg38 chr2 63,841,036 63,891,402 50,367
ENST00000337130.10 hg19 chr2 64,069,030 64,118,694 49,665
ENST00000394417.7 hg19 chr2 64,068,103 64,118,694 50,592
ENST00000445915.6 hg19 chr2 64,069,459 64,118,695 49,237
ENST00000467648.6 hg19 chr2 64,068,103 64,118,585 50,483
ENST00000613823.2 hg19 chr2 64,068,132 64,118,636 50,505
ENST00000626380.2 hg19 chr2 64,069,236 64,084,728 15,493
ENST00000677841.1 hg19 chr2 64,068,170 64,118,536 50,367
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