Specific Information of Variant: 22-45413743-C-A
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Related Small Proteins
SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
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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 | . |