RGD:127279896 Rat Genome Database

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Variant: RGD:127279896 -  Homo sapiens

RGD ID: 127279896
RS ID: rs1474595916
ClinVar ID: CV1101624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 111,293,920
GRCh38 13 110,641,573
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.1659G>A
NM_001352252.2:c.873G>A
NG_042045.2:g.77029G>A
NC_000013.11:g.110641573C>T
More... 		10/03/2020 non-coding transcript variant likely benign Combined oxidative phosphorylation deficiency 27
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARS2
Accession:NM_001352252
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRF
FCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDA
ILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFAL
AMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:NM_024537
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 553
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLS
STKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSE
ATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQ
KSAG*

Gene Symbol:CARS2
Accession:XM_047430609
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRF
FCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDA
ILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFAL
AMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:XM_006719953
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNV
YFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHS
GGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAI
DYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQ
LRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEATGDARR
QQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

Gene Symbol:CARS2
Accession:XM_047430606
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 438
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQRNGVRSLRNIFTEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYF
DLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGG
IDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDY
SDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQLR
ASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQ
LLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG*

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_047430605
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430607
Location:INTRON

Gene Symbol:CARS2
Accession:XM_011521118
Location:INTRON

Gene Symbol:CARS2
Accession:XM_017020742
Location:INTRON

Gene Symbol:CARS2
Accession:NM_001352253
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001446047 CLINVAR
dbSNP (RS) rs1474595916 CLINVAR
MedGen C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR