Specific Information of Variant: 22-45413743-C-A
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA246172 | 22 | ATT | + | 45413701-45413770 | Non-Synonymous p.H14Q |
| SPROHSA299944 | 36 | CTG | + | 45413742-45413853 | Non-Synonymous p.L1M |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 73385 | 0.5126 |
| 1KGP3 | 2937 | 0.58646 |
| TOPMed | 65063 | 0.51815 |
| GAsP | 2161 | 0.621 |
| NyuWa | 3328 | 0.55485 |
| Ribosome profiling | SRR5350740; SRR5350745; SRR1795425; SRR1795427; SRR618771; SRR618773 |
5'UTR Effect
| Variant Type | uAUG_gained |
| Gene | RIBC2 |
| Context | TCACTGG |
| Kozak Sequence | TCAATGG |
| Kozak Strength | Moderate |
| Effect | uORF_created |
| Distance to CDS | 159 |
| Distance to Alt Stop | . |