RGD:151728608 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:151728608 -  Homo sapiens

RGD ID: 151728608
RS ID: rs1330266756
ClinVar ID: CV1515743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  LOC130010127  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 111,358,326
GRCh38 13 110,705,979
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.-776+392G>T
NM_001352253.3:c.115G>T
NM_024537.4:c.115G>T
NG_042045.2:g.12623G>T
More... 		09/01/2021 intron variant uncertain significance Combined oxidative phosphorylation deficiency 27
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARS2
Accession:NM_001352252
Location:5UTRS;INTRON

Gene Symbol:CARS2
Accession:XM_006719953
Location:5UTRS;INTRON

Gene Symbol:CARS2
Accession:XM_017020742
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKPSTTVTAPCSKLSSCSWGWALSWRTHVPT*

Gene Symbol:CARS2
Accession:XM_047430607
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLS
STKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKKPGERPD*

Gene Symbol:CARS2
Accession:XM_047430605
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERPG
PTASPPLPTHGCPGQRCTFIPACRVFRMVLVITHPCHFSRVGSQWPREAEIREPRAGPPQPLFVSGQPCRLSPTESSLPL
PSISIDF*

Gene Symbol:CARS2
Accession:NM_024537
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLS
STKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSE
ATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQ
KSAG*

Gene Symbol:CARS2
Accession:XM_011521118
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSAVCSQKWMQHHELS
NTSNPAVLEFTWMHWKSRISKFTGSRLTSLITFWGWTAKGMK*

Gene Symbol:CARS2
Accession:NM_001352253
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGDEIIPRSSKSVKP
TATGPLILPTQRPTSATLFLDNGQQASPPSA*

Gene Symbol:CARS2
Accession:XM_047430608
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRWRAWLQPTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGP
TVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSK
SLKNYITIKPSTTVTAPCSKLSSCSWGWALSWRTHVPT*

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

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

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

Gene Symbol:CARS2
Accession:XM_047430606
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430609
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001983964 CLINVAR
dbSNP (RS) rs1330266756 CLINVAR
MedGen C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
  LOC130010127 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR