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

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

Data sources
SourceAllele CountAllele Frequency
gnomAD3733850.5126
1KGP329370.58646
TOPMed650630.51815
GAsP21610.621
NyuWa33280.55485
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 Alt Stop.