| Entrez Gene ID | 64100 |
|---|---|
| Official Gene Symbol | ELSPBP1 (GeneCards) |
| Full name | epididymal sperm binding protein 1 |
| Location | 19q13.33 |
| Other ids | Vega : OTTHUMG00000183138 MIM : 607443 HGNC : HGNC:14417 Ensembl : ENSG00000169393 |
| Other names | E12, HE12, EL149, EDDM12 |
| Summary | The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21057 | 64100 | ELSPBP1 | 19 | 48511851 | 48511851 | Cockayne syndrome | HiSeq X Ten |
| 21091 | 64100 | ELSPBP1 | 19 | 48518367 | 48518367 | Xeroderma Pigmentosum | HiSeq X Ten |