RGD:401769709 Rat Genome Database

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Variant: RGD:401769709 -  Homo sapiens

RGD ID: 401769709
ClinVar ID: CV2731556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAAH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 46,860,099
GRCh38 1 46,394,427
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001441.3:c.79G>C
NG_090934.1:g.323G>C
NG_012195.2:g.5112G>C
NG_012195.1:g.5161G>C
More... 		04/25/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAAH
Accession:NM_001441
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQYELWAALPGASGVALACCFVAAALALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLP
QLVQKLHSRELAPEAVLFTYVGKAWEVNKGTNCVTSYLADCETQLSQAPRQGLLYGVPVSLKECFTYKGQDSTLGLSLNE
GVPAECDSVVVHVLKLQGAVPFVHTNVPQSMFSYDCSNPLFGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGG
SIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVESLALCLRALLCEDMFRLDPTVPPLPFREEVYT
SSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPC
LGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNMKSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALD
LNAPGRATGAVSYTMLYNCLDFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQKGMKKSVGLPVAVQCVALPWQEEL
CLRFMREVERLMTPEKQSS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003283821 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FAAH CLINVAR
OMIM 602935 CLINVAR