| Variant ID | 24771 |
|---|---|
| Entrez Gene ID | 81615 |
| Gene | TMEM163 (GeneCards) |
| Location | hg19 2:135578861-135578861
hg38 2:134821291-134821291 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.135578861 G>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0873 |
| CADD Raw score (version 1.3) | 0.74421 (Deleterious) |
| FATHMM raw prediction score | 0.0834 (Tolerated) |
| Deleterious probability by DeFine | 0.5297 (Deleterious) |
| Entrez Gene ID | 81615 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM163 (GeneCards) |
| Number of variants in TMEM163 in this database | 3 (view all the variants) |
| Full name | transmembrane protein 163 |
| Band | 2q21.3 |
| Other IDs | Vega: OTTHUMG00000131713 HGNC: HGNC:25380 Ensembl: ENSG00000152128 |
| Other names | DC29, SV31 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |