Entrez Gene ID | 171019 |
---|---|
Official Gene Symbol | ADAMTS19 (GeneCards) |
Full name | ADAM metallopeptidase with thrombospondin type 1 motif 19 |
Location | 5q23.3 |
Other ids | Vega : OTTHUMG00000128990 MIM : 607513 HGNC : HGNC:17111 Ensembl : ENSG00000145808 |
Other names | None |
Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
8226 | 171019 | ADAMTS19 | 5 | 128983596 | 128983596 | Asymptomatic | HiSeq X Ten |
8638 | 171019 | ADAMTS19 | 5 | 128826620 | 128826620 | Cockayne syndrome | HiSeq X Ten |
8688 | 171019 | ADAMTS19 | 5 | 128887426 | 128887426 | Cockayne syndrome | HiSeq X Ten |
8766 | 171019 | ADAMTS19 | 5 | 128971585 | 128971585 | Cockayne syndrome | HiSeq X Ten |
25829 | 171019 | ADAMTS19 | 5 | 128942513 | 128942513 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25981 | 171019 | ADAMTS19 | 5 | 128952265 | 128952265 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |