Variant ID | 9-122264840-A-C |
Genome Position | chr9:122264840 |
ClinVar | . |
SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
---|---|---|---|---|---|
SPROHSA216137 | 56 | ATG | + | 122264695-122264866 | Non-Synonymous p.S49R |
SPROHSA337423 | 44 | GTG | + | 122264731-122264866 | Non-Synonymous p.S37R |
Source | Allele Count | Allele Frequency |
---|---|---|
gnomAD3 | 136475 | 0.95221 |
1KGP3 | 4874 | 0.97324 |
TOPMed | 119876 | 0.95467 |
GAsP | 3436 | 0.988 |
NyuWa | 5990 | 0.99867 |
Ribosome profiling | SRR3680969 |
Variant Type | uSTOP_lost |
Gene | MRRF |
Context | TTAAGCC |
Kozak Sequence | . |
Kozak Strength | Weak |
Effect | CDS_elongated |
Distance to CDS | . |
Distance to Alt Stop | NA |