RGD:156176868 Rat Genome Database

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Variant: RGD:156176868 -  Homo sapiens

RGD ID: 156176868
ClinVar ID: CV2327137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNTN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 63,645,412
GRCh38 3 63,659,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080537.2:c.157T>C
NM_001348756.2:c.157T>C
NC_000003.12:g.63659736T>C
NC_000003.11:g.63645412T>C
More... 		12/01/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNTN
Accession:NM_001080537
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCMHSTQDKSLHLEGDPNPSAAPTSTCAPRKMPKRISISKQLASVKALRKRSDLEKAIATTALIFRNSSDSDGKLEKA
IAKDLLQTQFRNFAEGQETKPKYREILSELDEHTENKLDFEDFMILLLSITVMSDLLQNIRNVKIMK*

Gene Symbol:SNTN
Accession:NM_001348756
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCMHSTQDKSLHLEGDPNPSAAPTSTCAPRKMPKRISISKQLASVKALRKRSDLEKAIATTALIFRNSSDSDGKLEKA
IAKDLLQTQFRNFAELPFTFYHEWKQPEVLTTCRCLILNFPAIRIGQETKPKYREILSELDEHTENKLDFEDFMILLLSI
TVMSDLLQNIRNVKIMK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002930171 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SNTN CLINVAR
OMIM 617832 CLINVAR