RGD:15191209 Rat Genome Database

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Variant: RGD:15191209 -  Homo sapiens

RGD ID: 15191209
RS ID: rs71635690
ClinVar ID: CV718387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FMO2  LOC105371611  LOC124900413  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 171,176,877
GRCh38 1 171,207,738
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365900.1:c.1009G>A
NM_001460.5:c.1204G>A
NM_001301347.2:c.544G>A
NC_000001.11:g.171207738G>A
More... 		03/29/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FMO2
Accession:NM_001460
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 402
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKKVAVIGAGVSGLISLKCCVDEGLEPTCFERTEDIGGVWRFKENVEDGRASIYQSVVTNTSKEMSCFSDFPMPEDFPN
FLHNSKLLEYFRIFAKKFDLLKYIQFQTTVLSVRKCPDFSSSGQWKVVTQSNGKEQSAVFDAVMVCSGHHILPHIPLKSF
PGMERFKGQYFHSRQYKHPDGFEGKRILVIGMGNSGSDIAVELSKNAAQVFISTRHGTWVMSRISEDGYPWDSVFHTRFR
SMLRNVLPRTAVKWMIEQQMNRWFNHENYGLEPQNKYIMKEPVLNDDVPSRLLCGAIKVKSTVKELTETSAIFEDGTVEE
NIDVIIFATGYSFSFPFLEDSLVKVENNMVSLYKYIFPAHLDKSTLACIGLIQPLGSIFPTAELQARWVTRVFKGLCSLP
SKRTMMMDIIKRNEKRIDLFGESQSQTLQTNYVDYLDELALEIGAKPDFCSLLFKDPKLAVRLYFGPCNSYQYRLVGPGQ
WEGARNAIFTQKQRILKPLKTRALKDSSNFSVSFLLKILGLLAVVVAFFCQLQWS*

Gene Symbol:FMO2
Accession:NM_001301347
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRISEDGYPWDSVFHTRFRSMLRNVLPRTAVKWMIEQQMNRWFNHENYGLEPQNKYIMKEPVLNDDVPSRLLCGAIKVK
STVKELTETSAIFEDGTVEENIDVIIFATGYSFSFPFLEDSLVKVENNMVSLYKYIFPAHLDKSTLACIGLIQPLGSIFP
TAELQARWVTRVFKGLCSLPSKRTMMMDIIKRNEKRIDLFGESQSQTLQTNYVDYLDELALEIGAKPDFCSLLFKDPKLA
VRLYFGPCNSYQYRLVGPGQWEGARNAIFTQKQRILKPLKTRALKDSSNFSVSFLLKILGLLAVVVAFFCQLQWS*

Gene Symbol:FMO2
Accession:NM_001365900
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSCFSDFPMPEDFPNFLHNSKLLEYFRIFAKKFDLLKYIQFQTTVLSVRKCPDFSSSGQWKVVTQSNGKEQSAVFDAVMV
CSGHHILPHIPLKSFPGMERFKGQYFHSRQYKHPDGFEGKRILVIGMGNSGSDIAVELSKNAAQVFISTRHGTWVMSRIS
EDGYPWDSVFHTRFRSMLRNVLPRTAVKWMIEQQMNRWFNHENYGLEPQNKYIMKEPVLNDDVPSRLLCGAIKVKSTVKE
LTETSAIFEDGTVEENIDVIIFATGYSFSFPFLEDSLVKVENNMVSLYKYIFPAHLDKSTLACIGLIQPLGSIFPTAELQ
ARWVTRVFKGLCSLPSKRTMMMDIIKRNEKRIDLFGESQSQTLQTNYVDYLDELALEIGAKPDFCSLLFKDPKLAVRLYF
GPCNSYQYRLVGPGQWEGARNAIFTQKQRILKPLKTRALKDSSNFSVSFLLKILGLLAVVVAFFCQLQWS*

Gene Symbol:FMO2
Accession:XR_921761
Location:EXON;NON-CODING

Gene Symbol:FMO2
Accession:XR_001737072
Location:EXON;NON-CODING

Gene Symbol:FMO2
Accession:NR_160266
Location:EXON;NON-CODING

Gene Symbol:FMO2
Accession:XR_007057966
Location:EXON;NON-CODING

Gene Symbol:LOC105371611
Accession:XR_922278
Location:INTRON;NON-CODING

Gene Symbol:LOC105371611
Accession:XR_001738291
Location:INTRON;NON-CODING

Gene Symbol:LOC124900413
Accession:XR_007066731
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888316 CLINVAR
dbSNP (RS) rs71635690 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FMO2 CLINVAR
OMIM 603955 CLINVAR