RGD:155936240 Rat Genome Database

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Variant: RGD:155936240 -  Homo sapiens

RGD ID: 155936240
ClinVar ID: CV2380351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OSCAR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 54,600,311
GRCh38 19 54,097,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206818.1:c.223G>T
NP_001269279.1:p.Ala60Ser
NP_573398.2:p.Ala60Ser
NP_001269278.1:p.Ala71Ser
More... 		07/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OSCAR
Accession:NM_133168
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLFPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEISPLLFRDVSSELAEFFLEEVT
PAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFVLYREGVAAPLQ
YRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLAGLVLISLGALVTFDW
RSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_001282349
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEISPLLFRDVSS
ELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFV
LYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAPGPPP
SDPGAQAPSLSSFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_206818
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVAIIVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEISPLLFR
DVSSELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRN
MSFVLYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAP
GPPPSDPGAQAPSLSSFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_001282350
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLFPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEISPLLFRDVSSELAEFFLEEVT
PAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFVLYREGVAAPLQ
YRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAPGPPPSDPGAQAPSLS
SFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_133169
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEISPLLFRDVSS
ELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFV
LYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLAGLVL
ISLGALVTFDWRSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_130771
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVAIIVPPASYHPKPWLGAQPATVVTPGVNVTLRCRAPQPAWRFGLFKPGEISPLLFR
DVSSELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRN
MSFVLYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLA
GLVLISLGALVTFDWRSQNRAPAGIRP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004217965 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OSCAR CLINVAR
OMIM 606862 CLINVAR