rs1251663679 Rat Genome Database

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Variant: rs1251663679 -  Homo sapiens

RGD ID: 153348718
RS ID: rs1251663679
ClinVar ID: CV1692762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127268602  YARS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,276,201
GRCh38 1 32,810,600
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003680.4:c.371A>C
LRG_273:g.12433A>C
NG_008408.1:g.12433A>C
NC_000001.11:g.32810600T>G
More... 		06/23/2023 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS1
Accession:XM_011542347
Location:5UTRS;INTRON

Gene Symbol:YARS1
Accession:NM_003680
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL
DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYPLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL
LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED
VKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL
LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR
TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE
LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002274618 CLINVAR
  RCV003355842 CLINVAR
dbSNP (RS) rs1251663679 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR