UPP2 uridine phosphorylase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 40 |
Ranking
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0 |
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54 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | UDRPASE2 |
SYNONYM | UP2 |
SYNONYM | UPASE2 |
MIM | 617340 OMIM |
HGNC | HGNC:23061 HGNC |
Ensembl | ENSG00000007001 Ensembl |
AllianceGenome | HGNC:23061 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000005756.5 | hg38 | chr2 | 158,101,876 | 158,136,154 | 34,279 |
ENST00000605860.5 | hg38 | chr2 | 157,876,702 | 158,136,154 | 259,453 |
ENST00000605860.5 | hg19 | chr2 | 158,733,214 | 158,992,666 | 259,453 |
ENST00000005756.5 | hg19 | chr2 | 158,958,388 | 158,992,666 | 34,279 |
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