Specific Information of Variant: 4-184649399-T-C
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA206636 | 8 | ATG | - | 184649397-184649424 | Stop Loss p.*9W |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 43944 | 0.30712 |
| 1KGP3 | 2003 | 0.39996 |
| TOPMed | 40329 | 0.32117 |
| GAsP | 1744 | 0.505 |
| NyuWa | 4059 | 0.6774 |
| Ribosome profiling | SRR3208885; SRR3208921; SRR5227294; SRR6181541; SRR627625; SRR810100 |
5'UTR Effect
| Variant Type | uSTOP_lost |
| Gene | CASP3 |
| Context | TTCTACA |
| Kozak Sequence | . |
| Kozak Strength | Moderate |
| Effect | uORF_elongated |
| Distance to CDS | . |
| Distance to Alt Stop | 75 |