| Variant ID | 23925 |
|---|---|
| Entrez Gene ID | 23531 |
| Gene | MMD (GeneCards) |
| Location | hg19 17:53609730-53609730
hg38 17:55532369-55532369 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000017.10:g.53609730 G>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.269 |
| CADD Raw score (version 1.3) | 0.132566 (Deleterious) |
| FATHMM raw prediction score | 0.19671 (Tolerated) |
| Deleterious probability by DeFine | 0.5948 (Deleterious) |
| Entrez Gene ID | 23531 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MMD (GeneCards) |
| Number of variants in MMD in this database | 5 (view all the variants) |
| Full name | monocyte to macrophage differentiation associated |
| Band | 17q22 |
| Other IDs | Vega: OTTHUMG00000177845 OMIM: 604467 HGNC: HGNC:7153 Ensembl: ENSG00000108960 |
| Other names | MMA, MMD1, PAQR11 |
| Summary | This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008] |
| 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; |