Entrez Gene ID | 2259 |
---|---|
Official Gene Symbol | FGF14 (GeneCards) |
Full name | fibroblast growth factor 14 |
Location | 13q33.1 |
Other ids | Vega : OTTHUMG00000017303 MIM : 601515 HGNC : HGNC:3671 Ensembl : ENSG00000102466 |
Other names | FHF4, FHF-4, SCA27, FGF-14 |
Summary | The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] |
Found 15 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
17111 | 2259 | FGF14 | 13 | 103097791 | 103097791 | Asymptomatic | HiSeq X Ten |
17200 | 2259 | FGF14 | 13 | 102849113 | 102849113 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17321 | 2259 | FGF14 | 13 | 102697735 | 102697735 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17385 | 2259 | FGF14 | 13 | 102512415 | 102512415 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17407 | 2259 | FGF14 | 13 | 103095257 | 103095257 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17469 | 2259 | FGF14 | 13 | 103235173 | 103235173 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17488 | 2259 | FGF14 | 13 | 102911656 | 102911656 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17707 | 2259 | FGF14 | 13 | 102505815 | 102505815 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17738 | 2259 | FGF14 | 13 | 102515980 | 102515980 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17760 | 2259 | FGF14 | 13 | 103223392 | 103223392 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
17956 | 2259 | FGF14 | 13 | 103202666 | 103202666 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
23717 | 2259 | FGF14 | 13 | 102904615 | 102904615 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
23757 | 2259 | FGF14 | 13 | 102708575 | 102708575 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
27630 | 2259 | FGF14 | 13 | 102918198 | 102918198 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
27653 | 2259 | FGF14 | 13 | 102921831 | 102921831 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |