RGD:13626439 Rat Genome Database

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Variant: RGD:13626439 -  Homo sapiens

RGD ID: 13626439
RS ID: rs750105786
ClinVar ID: CV518835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAT2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 85,770,099
GRCh38 2 85,542,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029183.1:g.8999A>G
NC_000002.12:g.85542976A>G
NC_000002.11:g.85770099A>G
NP_005902.1:p.Arg343Gly
More... 		10/25/2017 missense variant uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAT2A
Accession:NM_005911
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGQLNGFHEAFIEEGTFLFTSESVGEGHPDKICDQISDAVLDAHLQQDPDAKVACETVAKTGMILLAGEITSRAAVDYQ
KVVREAVKHIGYDDSSKGFDYKTCNVLVALEQQSPDIAQGVHLDRNEEDIGAGDQGLMFGYATDETEECMPLTIVLAHKL
NAKLAELRRNGTLPWLRPDSKTQVTVQYMQDRGAVLPIRVHTIVISVQHDEEVCLDEMRDALKEKVIKAVVPAKYLDEDT
IYHLQPSGRFVIGGPQGDAGLTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARWVAKSLVKGGLCRRVLVQVSY
AIGVSHPLSISIFHYGTSQKSEGELLEIVKKNFDLRPGVIVRDLDLKKPIYQRTAAYGHFGRDSFPWEVPKKLKY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000654813 CLINVAR
  RCV002386119 CLINVAR
dbSNP (RS) rs750105786 CLINVAR
MedGen C4707243 CLINVAR
  CN230736 CLINVAR
NCBI Gene MAT2A CLINVAR
OMIM 601468 CLINVAR