RGD:14712345 Rat Genome Database

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Variant: RGD:14712345 -  Homo sapiens

RGD ID: 14712345
RS ID: rs62176112
ClinVar ID: CV629031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127275346  PRKRA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 179,315,726
GRCh38 2 178,450,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316362.2:c.-418C>G
NM_003690.5:c.32C>G
NG_012186.1:g.4564G>C
NG_009053.1:g.5233C>G
More... 		12/17/2018 5 prime utr variant uncertain significance DYT-PRKRA
Disease Annotations     Click to see Annotation Detail View
dystonia 16  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PRKRA
Accession:NM_001316362
Location:5UTRS;EXON

Gene Symbol:PRKRA
Accession:XM_047446138
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETDKCSRTFFRMYLAFLEEFSW*

Gene Symbol:PRKRA
Accession:NM_003690
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTD
YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_001139517
Location:INTRON

Gene Symbol:PRKRA
Accession:XM_011512063
Location:INTRON

Gene Symbol:PRKRA
Accession:NM_001139518
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000810258 CLINVAR
dbSNP (RS) rs62176112 CLINVAR
MedGen C2677567 CLINVAR
NCBI Gene PRKRA CLINVAR
OMIM 603424 CLINVAR
  612067 CLINVAR