| Variant ID | 24410 |
|---|---|
| Entrez Gene ID | 127700 |
| Gene | OSCP1 (GeneCards) |
| Location | hg19 1:36899389-36899389
hg38 1:36433788-36433788 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.36899389 G>C (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0401 |
| CADD Raw score (version 1.3) | -0.212083 (Deleterious) |
| FATHMM raw prediction score | 0.13631 (Tolerated) |
| Deleterious probability by DeFine | 0.4215 (Neutral) |
| Entrez Gene ID | 127700 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OSCP1 (GeneCards) |
| Number of variants in OSCP1 in this database | 2 (view all the variants) |
| Full name | organic solute carrier partner 1 |
| Band | 1p34.3 |
| Other IDs | Vega: OTTHUMG00000008139 OMIM: 608854 HGNC: HGNC:29971 Ensembl: ENSG00000116885 |
| Other names | NOR1, C1orf102 |
| 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 |