RGD:13525124 Rat Genome Database

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Variant: RGD:13525124 -  Homo sapiens

RGD ID: 13525124
RS ID: rs41290031
ClinVar ID: CV500189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAT2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 85,769,391
GRCh38 2 85,542,268
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.8291C>T
NC_000002.11:g.85769391C>T
NC_000002.12:g.85542268C>T
NM_005911.6:c.663C>T
More... 		03/14/2019 synonymous variant likely benign none provided; 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: A to A (synonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGQLNGFHEAFIEEGTFLFTSESVGEGHPDKICDQISDAVLDAHLQQDPDAKVACETVAKTGMILLAGEITSRAAVDYQ
KVVREAVKHIGYDDSSKGFDYKTCNVLVALEQQSPDIAQGVHLDRNEEDIGAGDQGLMFGYATDETEECMPLTIVLAHKL
NAKLAELRRNGTLPWLRPDSKTQVTVQYMQDRGAVLPIRVHTIVISVQHDEEVCLDEMRDALKEKVIKAVVPAKYLDEDT
IYHLQPSGRFVIGGPQGDAGLTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARWVAKSLVKGGLCRRVLVQVSY
AIGVSHPLSISIFHYGTSQKSERELLEIVKKNFDLRPGVIVRDLDLKKPIYQRTAAYGHFGRDSFPWEVPKKLKY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926984 CLINVAR
  RCV001447968 CLINVAR
  RCV002368043 CLINVAR
dbSNP (RS) rs41290031 CLINVAR
MedGen C3661900 CLINVAR
  C4707243 CLINVAR
  CN230736 CLINVAR
NCBI Gene MAT2A CLINVAR
OMIM 601468 CLINVAR