Specific Information of Variant: 9-76394190-A-C
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA51610 | 35 | ACG | - | 76394167-76394275 | Non-Synonymous p.F29C |
| SPROHSA67636 | 16 | AGG | - | 76394167-76394218 | Non-Synonymous p.F10C |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 143170 | 0.99873 |
| 1KGP3 | 5005 | 0.9994 |
| TOPMed | 125408 | 0.99873 |
| GAsP | 3474 | 0.999 |
| NyuWa | 5998 | 1 |
| Ribosome profiling | SRR2818787; SRR2818791; SRR3208885; SRR3208921; SRR3317843; SRR3575897; SRR4045276; SRR4450331; SRR4450332; SRR5047770; SRR5047771; SRR5047772; SRR5227294; SRR5239056; SRR5239057; SRR5350744; SRR5350745; SRR5382423; SRR5382424; SRR5512738; SRR6053333; SRR6053334; SRR6838651; SRR7207252; SRR8907185; SRR8907187; SRR8310197; SRR8310198; SRR8310199; SRR8310200; SRR8310205; SRR6181539; SRR6181540; SRR6181541; SRR3680966; SRR3680967; SRR3680968; SRR3680969; SRR1333393; SRR1333394; SRR627622; SRR627625; SRR627626; SRR627627; SRR810100; SRR810101; SRR810102; SRR810103; SRR810104; SRR1795425; SRR1795426; SRR1795427; SRR1795428; SRR618771 |
5'UTR Effect
| Variant Type | uAUG_gained |
| Gene | RFK |
| Context | GGGAATG |
| Kozak Sequence | CCCATGC |
| Kozak Strength | Weak |
| Effect | CDS_elongated |
| Distance to CDS | 21 |
| Distance to Alt Stop | . |