RGD:126922500 Rat Genome Database

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Variant: RGD:126922500 -  Homo sapiens

RGD ID: 126922500
RS ID: rs141849127
ClinVar ID: CV1041703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAT2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 85,769,341
GRCh38 2 85,542,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005911.6:c.613A>G
NG_029183.1:g.8241A>G
NC_000002.12:g.85542218A>G
NC_000002.11:g.85769341A>G
More... 		12/25/2023 missense variant likely benign|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: I to V (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGQLNGFHEAFIEEGTFLFTSESVGEGHPDKICDQISDAVLDAHLQQDPDAKVACETVAKTGMILLAGEITSRAAVDYQ
KVVREAVKHIGYDDSSKGFDYKTCNVLVALEQQSPDIAQGVHLDRNEEDIGAGDQGLMFGYATDETEECMPLTIVLAHKL
NAKLAELRRNGTLPWLRPDSKTQVTVQYMQDRGAVLPIRVHTIVVSVQHDEEVCLDEMRDALKEKVIKAVVPAKYLDEDT
IYHLQPSGRFVIGGPQGDAGLTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARWVAKSLVKGGLCRRVLVQVSY
AIGVSHPLSISIFHYGTSQKSERELLEIVKKNFDLRPGVIVRDLDLKKPIYQRTAAYGHFGRDSFPWEVPKKLKY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001364744 CLINVAR
dbSNP (RS) rs141849127 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene MAT2A CLINVAR
OMIM 601468 CLINVAR