Variant #0000167048 (NC_000001.10:g.171072975A>G, FMO3(NM_001002294.2):c.182A>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.171072975A>G
DNA change (hg38) g.171103834A>G
Published as -
ISCN -
DB-ID FMO3_000002 See all 3 reported entries
Variant remarks abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole
Reference PubMed: Dolphin 2000
ClinVar ID -
dbSNP ID rs72549331
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.182A>G - r.(?) p.Asn61Ser