Genomic variant #0000024614

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795084G>A
Published as -
Reference Goto 2010
DB-ID MUTYH_000094 See all 23 reported entries
Frequency -
Variant remarks in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtyp
Genetic origin In vitro (cloned)
Segregation -
Average frequency (large NGS studies) 0.01107 View details
Owner Carli Tops




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     
MUTYH NM_001128425.1 -/? 16 c.1544C>T - p.Ser515Phe - 20848659_ S487F - - -