| Entrez Gene ID | 139741 |
|---|---|
| Official Gene Symbol | ACTRT1 (GeneCards) |
| Full name | actin related protein T1 |
| Location | Xq25 |
| Other ids | Vega : OTTHUMG00000022359 MIM : 300487 HGNC : HGNC:24027 Ensembl : ENSG00000123165 |
| Other names | AIP1, ARIP1, ARPT1, HSD27 |
| Summary | This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010] |
Found 11 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22075 | 139741 | ACTRT1 | X | 128525268 | 128525268 | Asymptomatic | HiSeq X Ten |
| 22091 | 139741 | ACTRT1 | X | 128125713 | 128125713 | Asymptomatic | HiSeq X Ten |
| 22231 | 139741 | ACTRT1 | X | 128437573 | 128437573 | Asymptomatic | HiSeq X Ten |
| 22329 | 139741 | ACTRT1 | X | 127779210 | 127779210 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22364 | 139741 | ACTRT1 | X | 128192475 | 128192475 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22384 | 139741 | ACTRT1 | X | 127813075 | 127813075 | Xeroderma Pigmentosum | HiSeq X Ten |
| 28816 | 139741 | ACTRT1 | X | 127619301 | 127619301 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28847 | 139741 | ACTRT1 | X | 127735910 | 127735910 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28941 | 139741 | ACTRT1 | X | 128075541 | 128075541 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29006 | 139741 | ACTRT1 | X | 127324814 | 127324814 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29077 | 139741 | ACTRT1 | X | 127498409 | 127498409 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |