| Variant ID | 23714 |
|---|---|
| Entrez Gene ID | 55757 |
| Gene | UGGT2 (GeneCards) |
| Location | hg19 13:96661740-96661740
hg38 13:96009486-96009486 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.96661740 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2698 |
| CADD Raw score (version 1.3) | 0.295741 (Deleterious) |
| FATHMM raw prediction score | 0.10115 (Tolerated) |
| Deleterious probability by DeFine | 0.0621 (Neutral) |
| Entrez Gene ID | 55757 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UGGT2 (GeneCards) |
| Number of variants in UGGT2 in this database | 3 (view all the variants) |
| Full name | UDP-glucose glycoprotein glucosyltransferase 2 |
| Band | 13q32.1 |
| Other IDs | Vega: OTTHUMG00000017230 OMIM: 605898 HGNC: HGNC:15664 Ensembl: ENSG00000102595 |
| Other names | UGT2, HUGT2, UGCGL2 |
| Summary | UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |