RGD:156358299 Rat Genome Database

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Variant: RGD:156358299 -  Homo sapiens

RGD ID: 156358299
ClinVar ID: CV2251003
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RTP3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 46,541,907
GRCh38 3 46,500,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_031440.2:c.217A>G
NC_000003.12:g.46500417A>G
NC_000003.11:g.46541907A>G
NM_031440.1:c.217A>G
More... 		01/07/2022 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:RTP3
Accession:NM_031440
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDTEVWKQMFQELMREVKPWHRWTLRPDKGLLPNVLKPGWMQYQQWTFARFQCSSCSRNWASAQVLVLFHVNWSEEKS
RGQVKMRVFTQRCKKCPQPLFEDPEFTQENISRILKNLVFRILKKCYRGRFQLIEEVPMIKDISLEGPHNSDNCEACLQG
FCAGPIQVTSLPPSQTPRVHSIYKVEEVVKPWASGENVYSYACQNHICRNLSIFCCCVILIVIVVIVVKTAI*
.


Database
Acc Id
Source(s)
ClinVar RCV004123571 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RTP3 CLINVAR
OMIM 607181 CLINVAR