Specific Information of Variant: 10-116272107-G-A
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA121592 | 98 | ATC | - | 116271054-116271115,116271989-116272225 | Non-Synonymous p.T40M |
| SPROHSA186468 | 19 | ATG | - | 116272101-116272161 | Non-Synonymous p.R19C |
| SPROHSA251745 | 17 | CTG | - | 116272101-116272155 | Non-Synonymous p.R17C |
| SPROHSA260479 | 71 | CTG | - | 116272003-116272216 | Non-Synonymous p.T37M |
| SPROHSA260480 | 95 | CTG | - | 116271054-116271115,116271989-116272216 | Non-Synonymous p.T37M |
| SPROHSA311389 | 41 | CTG | - | 116272003-116272126 | Non-Synonymous p.T7M |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 82137 | 0.57388 |
| 1KGP3 | 2503 | 0.4998 |
| TOPMed | 71883 | 0.57246 |
| GAsP | 1592 | 0.457 |
| NyuWa | 3211 | 0.53535 |
| Ribosome profiling | SRR2818787; SRR3208885; SRR3208921; SRR5047770; SRR5350740; SRR5990809; SRR5990810; SRR5990811; SRR6838651; SRR8310197; SRR8310201; SRR8310198; SRR8310199; SRR8310200; SRR8310205; SRR810100; SRR810101; SRR1795427 |
5'UTR Effect
| Variant Type | uAUG_gained |
| Gene | GFRA1 |
| Context | AGCGTGC |
| Kozak Sequence | TGCATGC |
| Kozak Strength | Weak |
| Effect | out-of-frame_oORF |
| Distance to CDS | 79 |
| Distance to Alt Stop | . |