RGD:13808541 Rat Genome Database

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Variant: RGD:13808541 -  Homo sapiens

RGD ID: 13808541
RS ID: rs143777330
ClinVar ID: CV572205
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 111,294,748
GRCh38 13 110,642,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352252.2:c.751C>T
NR_147942.2:n.1956C>T
NM_024537.4:c.1537C>T
NR_147941.1:n.1621C>T
More... 		05/30/2018 missense variant uncertain significance Combined oxidative phosphorylation deficiency 27; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARS2
Accession:NM_001352252
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRF
FCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDA
ILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFAL
AMPEATGDARWQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:XM_006719953
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNV
YFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHS
GGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAI
DYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQ
LRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEATGDARW
QQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:NM_024537
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 513
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLS
STKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSE
ATLHGVVDELVRFRQKVRQFALAMPEATGDARWQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQ
KSAG*

Gene Symbol:CARS2
Accession:XM_047430606
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 398
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQRNGVRSLRNIFTEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYF
DLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGG
IDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDY
SDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQLR
ASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEATGDARWQQ
LLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:XM_047430609
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRF
FCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDA
ILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFAL
AMPEATGDARWQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:NR_147942
Location:EXON;NON-CODING

Gene Symbol:CARS2
Accession:NR_147941
Location:EXON;NON-CODING

Gene Symbol:CARS2
Accession:XM_017020742
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430607
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430608
Location:INTRON

Gene Symbol:CARS2
Accession:XM_011521118
Location:INTRON

Gene Symbol:CARS2
Accession:NM_001352253
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430605
Location:INTRON

Gene Symbol:CARS2
Accession:XR_007063696
Location:INTRON;NON-CODING

Gene Symbol:CARS2
Accession:XR_001749667
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000687322 CLINVAR
  RCV002544775 CLINVAR
  RCV003151804 CLINVAR
dbSNP (RS) rs143777330 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR