RGD:8628736 Rat Genome Database

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Variant: RGD:8628736 -  Homo sapiens

RGD ID: 8628736
RS ID: rs138517585
ClinVar ID: CV83880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 3,533,872
GRCh38 X 3,615,831
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005044.4:c.935C>T
NG_016716.1:g.102804C>T
NC_000023.11:g.3615831G>A
NC_000023.10:g.3533872G>A
More... 		10/05/2022 missense|missense variant uncertain significance|not provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKX
Accession:NM_005044
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 312
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAPGLAQAAAAESDSRKVAEETPDGAPALCPSPEALSPEPPVYSLQDFDTLATVGTGTFGRVHLVKEKTAKHFFALKVM
SIPDVIRLKQEQHVHNEKSVLKEVSHPFLIRLFWTWHDERFLYMLMEYVPGGELFSYLRNRGRFSSTTGLFYSAEIICAI
EYLHSKEIVYRDLKPENILLDRDGHIKLTDFGFAKKLVDRTWTLCGTPEYLAPEVIQSKGHGRAVDWWALGILIFEMLSG
FPPFFDDNPFGIYQKILAGKIDFPRHLDFHVKDLIKKLLVVDRTRRLGNMKNGANDVKHHRWFRSVDWEAVLQRKLKPPI
VPKIAGDGDTSNFETYPENDWDTAAPVPQKDLEIFKNF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002769313 CLINVAR
dbSNP (RS) rs138517585 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PRKX CLINVAR
OMIM 300083 CLINVAR