UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
Information
- Symbol
- UGGT1
- Type
- protein-coding
- Description
- UDP-glucose glycoprotein glucosyltransferase 1
- Entrez Gene ID
- 56886
- Genome
- hg19
- Position
- chr2:128,848,774-128,953,251
- Genome
- hg38
- Position
- chr2:128,091,200-128,195,677
- MIM
- 605897 OMIM
- HGNC
- HGNC:15663 HGNC
- Ensembl
- ENSG00000136731 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 32 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 136 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
176 |
 |
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
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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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 | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HUGT1 |
| SYNONYM | UGCGL1 |
| SYNONYM | UGT1 |
| MIM | 605897 OMIM |
| HGNC | HGNC:15663 HGNC |
| Ensembl | ENSG00000136731 Ensembl |
| AllianceGenome | HGNC:15663 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000259253.11 | hg38 | chr2 | 128,091,200 | 128,195,677 | 104,478 |
| ENST00000259253.11 | hg19 | chr2 | 128,848,774 | 128,953,251 | 104,478 |
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