BOLL
boule RNA binding protein
Summary
This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142061895 | 2:198,607,800 | C/G | — | uncertain significance |
| rs372015936 | 2:198,607,813 | G/A | — | uncertain significance |
| rs762920202 | 2:198,607,850 | G/A | — | uncertain significance |
| rs700646 | 2:198,608,511 | C/T | intron variant | — |
| rs770667 | 2:198,613,308 | C/T | intron variant | — |
| rs1688563014 | 2:198,622,082 | G/A | — | uncertain significance |
| rs1047570451 | 2:198,622,123 | G/T | — | uncertain significance |
| rs700648 | 2:198,622,636 | C/T | intron variant | — |
| rs1065949 | 2:198,627,055 | G/A | intron variant | — |
| rs1241357648 | 2:198,631,294 | C/G | — | uncertain significance |
| rs143157211 | 2:198,631,315 | A/C | — | uncertain significance |
| rs700651 | 2:198,631,714 | G/A | intron variant | — |
| rs763959371 | 2:198,636,592 | G/A | — | uncertain significance |
| rs1444386001 | 2:198,636,698 | T/C | — | uncertain significance |
| rs201051448 | 2:198,636,700 | C/G | — | uncertain significance |
| rs2469120149 | 2:198,641,817 | T/C | — | uncertain significance |
| rs140394268 | 2:198,646,529 | C/T | — | uncertain significance |
| rs771018 | 2:198,650,259 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.