RGD:13215991 Rat Genome Database

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Variant: RGD:13215991 -  Homo sapiens

RGD ID: 13215991
RS ID: rs371015325
ClinVar ID: CV429850
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO31  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 87,367,890
GRCh38 16 87,334,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_047196.1:g.62824C>T
NC_000016.10:g.87334284G>A
NC_000016.9:g.87367890G>A
NM_024735.3:c.999C>T
More... 		03/14/2016 synonymous variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FBXO31
Accession:NM_024735
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVCARLCGVGPSRGCRRRQQRRGPAETAAADSEPDTDPEEERIEASAGVGGGLCAGPSPPPPRCSLLELPPELLVEIFA
SLPGTDLPSLAQVCTKFRRILHTDTIWRRRCREEYGVCENLRKLEITGVSCRDVYAKLLHRYRHILGLWQPDIGPYGGLL
NVVVDGLFIIGWMYLPPHDPHVDDPMRFKPLFRIHLMERKAATVECMYGHKGPHHGHIQIVKKDEFSTKCNQTDHHRMSG
GRQEEFRTWLREEWGRTLEDIFHEHMQELILMKFIYTSQYDNCLTYRRIYLPPSRPDDLIKPGLFKGTYGSHGLEIVMLS
FHGRRARGTKITGDPNIPAGQQTVEIDLRHRIQLPDLENQRNFNELSRIVLEVRERVRQEQQEGGHEAGEGRGRQGPRES
QPSPAQPRAEAPSKGPDGTPGEDGGEPGDAVAAAEQPAQCGQGQPFVLPVGVSSRNEDYPRTCRMCFYGTGLIAGHGFTS
PERTPGVFILFDEDRFGFVWLELKSFSLYSRVQATFRNADAPSPQAFDEMLKNIQSLTS*

Gene Symbol:FBXO31
Accession:NM_001282683
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLPPHDPHVDDPMRFKPLFRIHLMERKAATVECMYGHKGPHHGHIQIVKKDEFSTKCNQTDHHRMSGGRQEEFRTWLRE
EWGRTLEDIFHEHMQELILMKFIYTSQYDNCLTYRRIYLPPSRPDDLIKPGLFKGTYGSHGLEIVMLSFHGRRARGTKIT
GDPNIPAGQQTVEIDLRHRIQLPDLENQRNFNELSRIVLEVRERVRQEQQEGGHEAGEGRGRQGPRESQPSPAQPRAEAP
SKGPDGTPGEDGGEPGDAVAAAEQPAQCGQGQPFVLPVGVSSRNEDYPRTCRMCFYGTGLIAGHGFTSPERTPGVFILFD
EDRFGFVWLELKSFSLYSRVQATFRNADAPSPQAFDEMLKNIQSLTS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000503139 CLINVAR
dbSNP (RS) rs371015325 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FBXO31 CLINVAR
OMIM 609102 CLINVAR