RGD:26918119 Rat Genome Database

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Variant: RGD:26918119 -  Homo sapiens

RGD ID: 26918119
RS ID: rs564455691
ClinVar ID: CV840545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 111,294,810
GRCh38 13 110,642,463
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024537.4:c.1475G>A
NG_042045.2:g.76139G>A
NC_000013.11:g.110642463C>T
NC_000013.10:g.111294810C>T
More... 		12/16/2019 missense variant uncertain significance Combined oxidative phosphorylation deficiency 27
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARS2
Accession:XM_047430606
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 377
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQRNGVRSLRNIFTEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYF
DLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGG
IDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDY
SDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQLR
ASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVQFRQKVRQFALAMPEATGDARRQQ
LLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:NM_001352252
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRF
FCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDA
ILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVQFRQKVRQFAL
AMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:NM_024537
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 492
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLS
STKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSE
ATLHGVVDELVQFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQ
KSAG*

Gene Symbol:CARS2
Accession:XM_006719953
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNV
YFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHS
GGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAI
DYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQ
LRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVQFRQKVRQFALAMPEATGDARR
QQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:XM_047430609
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRF
FCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDA
ILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVQFRQKVRQFAL
AMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

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

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

Gene Symbol:CARS2
Accession:XM_047430608
Location:INTRON

Gene Symbol:CARS2
Accession:XM_017020742
Location:INTRON

Gene Symbol:CARS2
Accession:XM_011521118
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430605
Location:INTRON

Gene Symbol:CARS2
Accession:NM_001352253
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430607
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 RCV001057565 CLINVAR
dbSNP (RS) rs564455691 CLINVAR
MedGen C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR