Specific Information of Variant: 22-45413743-C-A
General Information
Variant ID22-45413743-C-A
Genome Positionchr22:45413743
ClinVar.

Related Small Proteins
IDLengthStart CodonStrandBlocksConsequence
SPROHSA24617222ATT+45413701-45413770Non-Synonymous p.H14Q
SPROHSA29994436CTG+45413742-45413853Non-Synonymous p.L1M

Data sources
SourceAllele CountAllele Frequency
gnomAD3733855.12601e-01
1KGP329370.586462
TOPMed650630.51815
GAsP21610.621
NyuWa33280.554851617206
Ribosome ProfilingSRR5350740;SRR5350745;SRR1795425;SRR1795427;SRR618771;SRR618773

5'UTR Effect
Variant TypeuAUG_gained
GeneRIBC2
ContextTCACTGG
Kozak SequenceTCAATGG
Kozak Strengthmoderate
EffectuORF_created
Distance to CDS159
Distance to Inframe Met108
Distance to Alt Stop.