RGD:13509410 Rat Genome Database

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Variant: RGD:13509410 -  Homo sapiens

RGD ID: 13509410
RS ID: rs529613640
ClinVar ID: CV420147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIMP2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 6,049,099
GRCh38 7 6,009,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006294.2:p.Tyr35Ter
NC_000007.14:g.6009468C>A
NC_000007.13:g.6049099C>A
NM_001326609.2:c.-216C>A
More... 		06/05/2018 5 prime utr variant|intron variant pathogenic|likely pathogenic|association|uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AIMP2
Accession:NM_001326609
Location:5UTRS;EXON

Gene Symbol:AIMP2
Accession:NM_001326611
Location:5UTRS;INTRON

Gene Symbol:AIMP2
Accession:NM_001326610
Location:5UTRS;INTRON

Gene Symbol:AIMP2
Accession:XM_047420835
Location:5UTRS;INTRON

Gene Symbol:AIMP2
Accession:NM_001326607
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRS*GPAPGAGHVQDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVL
STVHTHSSVKSVPENLLKCFGEQNKKQPRQDYQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVN
ATLIDSWVDIAIFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQRWMRSCENL
APFNTALKLLK*

Gene Symbol:AIMP2
Accession:NM_006303
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRS*GPAPGAGHVQEESNLSLQALESRQDDILKRLYELKAAVDGLSKMI
QTPDADLDVTNIIQADEPTTLTTNALDLNSVLGKDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKS
VPENLLKCFGEQNKKQPRQDYQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVNATLIDSWVDIA
IFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQRWMRSCENLAPFNTALKLLK
*

Gene Symbol:AIMP2
Accession:NM_001326606
Location:INTRON

Gene Symbol:AIMP2
Accession:XM_005249847
Location:INTRON

Gene Symbol:AIMP2
Accession:XM_047420834
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001362785
Location:INTRON

Gene Symbol:AIMP2
Accession:NM_001362787
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:29215095  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000579202 CLINVAR
  RCV000656387 CLINVAR
dbSNP (RS) rs529613640 CLINVAR
MedGen C4022737 CLINVAR
  C4693912 CLINVAR
NCBI Gene AIMP2 CLINVAR
OMIM 600859 CLINVAR
  618006 CLINVAR
OMIM Allele 600859.0001 CLINVAR