RGD:401943114 Rat Genome Database

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Variant: RGD:401943114 -  Homo sapiens

RGD ID: 401943114
ClinVar ID: CV2839975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RRM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 4,123,261
GRCh38 11 4,102,031
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_324t1:c.58T>C
NM_001318064.1:c.-56T>C
NM_001033.5:c.58T>C
LRG_324:g.12338T>C
More... 		11/01/2023 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RRM1
Accession:NM_001318064
Location:5UTRS;EXON

Gene Symbol:RRM1
Accession:NM_001033
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVIKRDGRQERVMFDKITPRIQKLCYGLNMDFVDPAQITMKVIQGLYSGVTTVELDTLAAETAATLTTKHPDYAILAAR
IAVSNLHKETKKVFSDVMEDLYNYINPHNGKHSPMVAKSTLDIVLANKDRLNSAIIYDRDFSYNYFGFKTLERSYLLKIN
GKVAERPQHMLMRVSVGIHKEDIDAAIETYNLLSERWFTHASPTLFNAGTNRPQLSSCFLLSMKDDSIEGIYDTLKQCAL
ISKSAGGIGVAVSCIRATGSYIAGTNGNSNGLVPMLRVYNNTARYVDQGGNKRPGAFAIYLEPWHLDIFEFLDLKKNTGK
EEQRARDLFFALWIPDLFMKRVETNQDWSLMCPNECPGLDEVWGEEFEKLYASYEKQGRVRKVVKAQQLWYAIIESQTET
GTPYMLYKDSCNRKSNQQNLGTIKCSNLCTEIVEYTSKDEVAVCNLASLALNMYVTSEHTYDFKKLAEVTKVVVRNLNKI
IDINYYPVPEACLSNKRHRPIGIGVQGLADAFILMRYPFESAEAQLLNKQIFETIYYGALEASCDLAKEQGPYETYEGSP
VSKGILQYDMWNVTPTDLWDWKVLKEKIAKYGIRNSLLIAPMPTASTAQILGNNESIEPYTSNIYTRRVLSGEFQIVNPH
LLKDLTERGLWHEEMKNQIIACNGSIQSIPEIPDDLKQLYKTVWEISQKTVLKMAAERGAFIDQSQSLNIHIAEPNYGKL
TSMHFYGWKQGLKTGMYYLRTRPAANPIQFTLNKEKLKDKEKVSKEEEEKERNTAAMVCSLENRDECLMCGS*

Gene Symbol:RRM1
Accession:NM_001318065
Location:INTRON

Gene Symbol:RRM1
Accession:NM_001330193
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003456762 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RRM1 CLINVAR
OMIM 180410 CLINVAR