RGD:401883868 Rat Genome Database

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Variant: RGD:401883868 -  Homo sapiens

RGD ID: 401883868
ClinVar ID: CV2764225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OSCAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,600,214
GRCh38 19 54,096,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282350.3:c.275G>A
NM_133168.6:c.275G>A
NM_001282349.3:c.308G>A
NM_133169.6:c.308G>A
More... 		06/16/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OSCAR
Accession:NM_130771
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVAIIVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEIAPLLFR
DVSSELAEFFLEEVTPAQGGSYRCCYQRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRN
MSFVLYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLA
GLVLISLGALVTFDWRSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_001282349
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSS
ELAEFFLEEVTPAQGGSYRCCYQRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFV
LYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAPGPPP
SDPGAQAPSLSSFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_133169
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSS
ELAEFFLEEVTPAQGGSYRCCYQRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFV
LYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLAGLVL
ISLGALVTFDWRSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_133168
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLFPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSSELAEFFLEEVT
PAQGGSYRCCYQRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFVLYREGVAAPLQ
YRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLAGLVLISLGALVTFDW
RSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_001282350
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLFPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSSELAEFFLEEVT
PAQGGSYRCCYQRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFVLYREGVAAPLQ
YRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAPGPPPSDPGAQAPSLS
SFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_206818
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVAIIVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEIAPLLFR
DVSSELAEFFLEEVTPAQGGSYRCCYQRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRN
MSFVLYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAP
GPPPSDPGAQAPSLSSFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003351012 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OSCAR CLINVAR
OMIM 606862 CLINVAR