| Entrez Gene ID | 8632 |
|---|---|
| Official Gene Symbol | DNAH17 (GeneCards) |
| Full name | dynein axonemal heavy chain 17 |
| Location | 17q25.3 |
| Other ids | Vega : OTTHUMG00000150216 MIM : 610063 HGNC : HGNC:2946 Ensembl : ENSG00000187775 |
| Other names | DNEL2, DNAHL1 |
| Summary | Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 949 | 8632 | DNAH17 | 17 | 76491112 | 76491112 | Human Skin Fibroblasts | HiSeq 2500 |
| 19885 | 8632 | DNAH17 | 17 | 76597774 | 76597774 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 29397 | 8632 | DNAH17 | 17 | 76521156 | 76521156 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten MiSeq |
| 29454 | 8632 | DNAH17 | 17 | 76475120 | 76475120 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten MiSeq |