| Variant ID | 27589 |
|---|---|
| Entrez Gene ID | 9169 |
| Gene | SCAF11 (GeneCards) |
| Location | hg19 12:46505402-46505402
hg38 12:46111619-46111619 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.46505402 C>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0735 |
| CADD Raw score (version 1.3) | 1.244455 (Deleterious) |
| FATHMM raw prediction score | 0.3889 (Tolerated) |
| Deleterious probability by DeFine | 0.0681 (Neutral) |
| Entrez Gene ID | 9169 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCAF11 (GeneCards) |
| Number of variants in SCAF11 in this database | 4 (view all the variants) |
| Full name | SR-related CTD associated factor 11 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000149930 OMIM: 603668 HGNC: HGNC:10784 Ensembl: ENSG00000139218 |
| Other names | SIP1, CASP11, SFRS2IP, SRRP129, SRSF2IP |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |