| Variant ID | 22636 |
|---|---|
| Entrez Gene ID | 79582 |
| Gene | SPAG16 (GeneCards) |
| Location | hg19 2:214722319-214722319
hg38 2:213857595-213857595 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.214722319 A>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 | -0.6246 |
| CADD Raw score (version 1.3) | -0.463813 (Deleterious) |
| FATHMM raw prediction score | 0.04229 (Tolerated) |
| Deleterious probability by DeFine | 0.1055 (Neutral) |
| Entrez Gene ID | 79582 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPAG16 (GeneCards) |
| Number of variants in SPAG16 in this database | 12 (view all the variants) |
| Full name | sperm associated antigen 16 |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000133015 OMIM: 612173 HGNC: HGNC:23225 Ensembl: ENSG00000144451 |
| Other names | PF20, WDR29 |
| Summary | Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, 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; |