rs2230263 Rat Genome Database

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Variant: rs2230263 -  Homo sapiens

RGD ID: 150493638
RS ID: rs2230263
ClinVar ID: CV1267187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KDELR2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 6,505,901
GRCh38 7 6,466,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001100603.2:c.352-3095A>G
NM_006854.4:c.405A>G
NC_000007.14:g.6466270T>C
NC_000007.13:g.6505901T>C
More... 		05/04/2021 intron variant benign none provided

Gene Symbol:KDELR2
Accession:NM_006854
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYL
KFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEILWTFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRA
LYLVNWIWRFYFEGFFDLIAVVAGVVQTILYCDFFYLYITKVLKGKKLSLPA*

Gene Symbol:KDELR2
Accession:NM_001100603
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001688215 CLINVAR
dbSNP (RS) rs2230263 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KDELR2 CLINVAR
OMIM 609024 CLINVAR