RGD:156130013 Rat Genome Database

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Variant: RGD:156130013 -  Homo sapiens

RGD ID: 156130013
ClinVar ID: CV2357910
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC51A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 195,953,919
GRCh38 3 196,227,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152672.6:c.217G>A
NC_000003.12:g.196227048G>A
NC_000003.11:g.195953919G>A
NM_152672.5:c.217G>A
More... 		09/29/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC51A
Accession:XM_047447662
Location:5UTRS;EXON

Gene Symbol:SLC51A
Accession:NM_152672
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGRTQIKLDPRYTADLLEVLKTNYGIPSACFSQPPTAAQLLRALGPVELALTSILTLLALGSIAIFLEDAIYLYKNTL
CPIKRRTLLWKSSAPTVVSVLCCFGLWIPRSLVLVEMTITSFYAVCFYLLMLVMVEGFGGKEAVLRTLRDTPMMVHTGPC
CCCCPCCPRLLLTRKKLQLLMLGPFQYAFLKITLTLVGLFLVPDGIYDPADISEGSTALWINTFLGVSTLLALWTLGIIS
RQARLHLGEQNMGAKFALFQVLLILTALQPSIFSVLANGGQIACSPPYSSKTRSQVMNCHLLILETFLMTVLTRMYYRRK
DHKVGYETFSSPDLDLNLKA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002981787 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SLC51A CLINVAR
OMIM 612084 CLINVAR