RGD:11060076 Rat Genome Database

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Variant: RGD:11060076 -  Homo sapiens

RGD ID: 11060076
RS ID: rs869312968
ClinVar ID: CV226906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIMP2  EIF2AK1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 6,062,932
GRCh38 7 6,023,301
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.6023301A>G
NC_000007.13:g.6062932A>G
NG_050738.1:g.19051A>G
NM_001326607.2:c.368-2A>G
More... 		06/12/2013 3 prime utr variant|splice acceptor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EIF2AK1
Accession:XM_047420200
Location:3UTRS;EXON

Gene Symbol:EIF2AK1
Accession:NM_014413
Location:3UTRS;EXON

Gene Symbol:EIF2AK1
Accession:NM_001134335
Location:3UTRS;EXON

Gene Symbol:AIMP2
Accession:NM_001362787
Location:INTRON

Gene Symbol:AIMP2
Accession:XM_005249847
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001362785
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_006303
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001326607
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001326610
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001326606
Location:INTRON

Gene Symbol:AIMP2
Accession:XM_047420834
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001326609
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001326611
Location:INTRON

Gene Symbol:AIMP2
Accession:XM_047420835
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000210704 CLINVAR
  RCV002247639 CLINVAR
dbSNP (RS) rs869312968 CLINVAR
MedGen C0950123 CLINVAR
  C4693912 CLINVAR
NCBI Gene AIMP2 CLINVAR
  EIF2AK1 CLINVAR
OMIM 600859 CLINVAR
  613635 CLINVAR
  618006 CLINVAR