Entrez Gene ID | 79582 |
---|---|
Official Gene Symbol | SPAG16 (GeneCards) |
Full name | sperm associated antigen 16 |
Location | 2q34 |
Other ids | Vega : OTTHUMG00000133015 MIM : 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] |
Found 12 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
2956 | 79582 | SPAG16 | 2 | 214607650 | 214607650 | Asymptomatic | HiSeq X Ten |
3027 | 79582 | SPAG16 | 2 | 214238332 | 214238332 | Asymptomatic | HiSeq X Ten |
3121 | 79582 | SPAG16 | 2 | 214190826 | 214190826 | Asymptomatic | HiSeq X Ten |
3845 | 79582 | SPAG16 | 2 | 215101656 | 215101656 | Asymptomatic | HiSeq X Ten |
3891 | 79582 | SPAG16 | 2 | 214766125 | 214766125 | Asymptomatic | HiSeq X Ten |
4443 | 79582 | SPAG16 | 2 | 215095699 | 215095699 | Xeroderma Pigmentosum | HiSeq X Ten |
4456 | 79582 | SPAG16 | 2 | 214779043 | 214779043 | Xeroderma Pigmentosum | HiSeq X Ten |
22636 | 79582 | SPAG16 | 2 | 214722319 | 214722319 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
22637 | 79582 | SPAG16 | 2 | 214801276 | 214801276 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24746 | 79582 | SPAG16 | 2 | 214667296 | 214667296 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24823 | 79582 | SPAG16 | 2 | 214714331 | 214714331 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24976 | 79582 | SPAG16 | 2 | 214460238 | 214460238 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |