Specific Information of Variant: 10-69802014-G-A
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA205101 | 12 | ATG | + | 69802001-69802040 | Non-Synonymous p.V5M |
| SPROHSA364811 | 36 | GTG | + | 69801929-69802040 | Non-Synonymous p.V29M |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 133154 | 0.92943 |
| 1KGP3 | 4454 | 0.88938 |
| TOPMed | 116213 | 0.9255 |
| GAsP | 3041 | 0.874 |
| NyuWa | 5034 | 0.83928 |
| Ribosome profiling | SRR2818787; SRR2818791; SRR5350744; SRR627622; SRR627626; SRR627627; SRR810100; SRR810101; SRR810102; SRR810103; SRR810104 |
5'UTR Effect
| Variant Type | uAUG_gained |
| Gene | COL13A1 |
| Context | TCCGTGT |
| Kozak Sequence | TCCATGT |
| Kozak Strength | Weak |
| Effect | uORF_created |
| Distance to CDS | 410 |
| Distance to Alt Stop | . |