Specific Information of Variant: 9-76394190-A-C
Related Small Proteins
| 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 | 9.98730e-01 |
| 1KGP3 | 5005 | 0.999401 |
| TOPMed | 125408 | 0.998726 |
| GAsP | 3474 | 0.999 |
| NyuWa | 5998 | 1.0 |
| 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 Inframe Met | NA |
| Distance to Alt Stop | . |