| Variant ID | 24801 |
|---|---|
| Entrez Gene ID | 6694 |
| Gene | SPP2 (GeneCards) |
| Location | hg19 2:235004647-235004647
hg38 2:234096003-234096003 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.235004647 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4567 |
| CADD Raw score (version 1.3) | -0.204399 (Deleterious) |
| FATHMM raw prediction score | 0.09604 (Tolerated) |
| Deleterious probability by DeFine | 0.4299 (Neutral) |
| Entrez Gene ID | 6694 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPP2 (GeneCards) |
| Number of variants in SPP2 in this database | 6 (view all the variants) |
| Full name | secreted phosphoprotein 2 |
| Band | 2q37.1 |
| Other IDs | Vega: OTTHUMG00000059208 OMIM: 602637 HGNC: HGNC:11256 Ensembl: ENSG00000072080 |
| Other names | SPP24, SPP-24 |
| Summary | This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |