RGD:8661182 Rat Genome Database

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Variant: RGD:8661182 -  Homo sapiens

RGD ID: 8661182
RS ID: rs515726183
ClinVar ID: CV136330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RRM2B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 103,238,259
GRCh38 8 102,226,031
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172477.1:c.424G>A
NG_016617.1:g.18088G>A
NC_000008.11:g.102226031C>T
NC_000008.10:g.103238259C>T
More... 		07/16/2022 missense variant pathogenic|uncertain significance|not provided none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RRM2B
Accession:NM_001172477
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLRLPPHRSHASPLDCKLQDRCRKCYSPRSGQACPPALAAAWLRRCERRGGRPRGGRRKELTLGLRPARCSAPGPAKD
DAWRPQAGRSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVNLSKDLPHWNKLKADEKYF
ISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSLLIDTYIRDPKKREFLFNAIETMPYVKKK
ADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRGLMPGLTFSNELISRDEGLHCDFACLMFQYLVNKPSE
ERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMKQYIEFVADRLLVELGFSKVFQAENPFDFMENISLEGKTNFFEKRV
SEYQRFAVMAETTDNVFTLDADF*

Gene Symbol:RRM2B
Accession:NM_001172478
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDPERPEAAGLDQDEVNLSKDLPHWNKLKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIEN
VHSEMYSLLIDTYIRDPKKREFLFNAIETMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRG
LMPGLTFSNELISRDEGLHCDFACLMFQYLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMKQYIEFVADR
LLVELGFSKVFQAENPFDFMENISLEGKTNFFEKRVSEYQRFAVMAETTDNVFTLDADF*

Gene Symbol:RRM2B
Accession:NM_015713
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDPERPEAAGLDQDERSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVNLSKDLPHWNK
LKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSLLIDTYIRDPKKREFLFNAIE
TMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRGLMPGLTFSNELISRDEGLHCDFACLMFQ
YLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMKQYIEFVADRLLVELGFSKVFQAENPFDFMENISLEGK
TNFFEKRVSEYQRFAVMAETTDNVFTLDADF*
Variant Samples
Additional References at PubMed
PMID:23107649   PMID:24741716   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000118987 CLINVAR
  RCV002514588 CLINVAR
dbSNP (RS) rs515726183 CLINVAR
MedGen C3661900 CLINVAR
  CN187502 CLINVAR
NCBI Gene RRM2B CLINVAR
OMIM 604712 CLINVAR