Specific Information of Variant: 19-43934947-T-G
>
Related Small Proteins
SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
---|
SPROHSA81311 | 22 | AGG | - | 43934945-43935014 | Stop Loss p.*23S |
SPROHSA123140 | 46 | ATC | - | 43934937-43935078 | Synonymous p.V44V |
Data sources
Source | Allele Count | Allele Frequency |
---|
gnomAD3 | 139165 | 0.971 |
1KGP3 | 4861 | 0.97065 |
TOPMed | 121803 | 0.97002 |
GAsP | 3458 | 0.995 |
NyuWa | 5998 | 1 |
Ribosome profiling | SRR2818791; SRR2991181; SRR1795425; SRR1795426; SRR1795427 |
5'UTR Effect
Variant Type | uSTOP_lost |
Gene | ZNF45 |
Context | AGCTACA |
Kozak Sequence | . |
Kozak Strength | Moderate |
Effect | uORF_elongated |
Distance to CDS | . |
Distance to Alt Stop | 246 |