rs75862065 Rat Genome Database

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Variant: rs75862065 -  Homo sapiens

RGD ID: 11597168
RS ID: rs75862065
ClinVar ID: CV286053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKRA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 179,309,165
GRCh38 2 178,444,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009053.1:g.11794C>T
NC_000002.12:g.178444438G>A
NC_000002.11:g.179309165G>A
NP_003681.1:p.Pro127Leu
More... 		01/12/2018 missense variant benign|likely benign DYT-PRKRA
Disease Annotations     Click to see Annotation Detail View
dystonia 16  (IAGP)

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST009148 High density lipoprotein cholesterol levels up to 237,050 European ancestry individuals A 0.3 0.000003 5.522878745280337 Illumina [242289] 0.024 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:29083408
GCST009151 High density lipoprotein cholesterol levels up to 237,050 European ancestry individuals, up to 16,935 African ancestry individuals, up to 30,468 South Asian ancestry individuals, up to 8,287 East Asian ancestry individuals, 5,084 Hispanic individuals A NR 2E-7 6.698970004336019 Illumina [242289] 0.026 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:29083408

Variant Details
Variant Transcripts
Gene Symbol:PRKRA
Accession:NM_001139518
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASI
CFAVPDPLMPDPSKQPKNQLNLIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAA
EKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELS
ANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:XM_011512063
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQVFGELNFFVFSSSKISWLSFAVPDPLMPDPSKQPKNQLNLIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRL
ESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLL
SEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_001139517
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRA
AEAAINILKANASICFAVPDPLMPDPSKQPKNQLNLIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMET
GKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKE
QGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_001316362
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDPSKQPKNQLNLIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFS
NISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCL
AELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_003690
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNLIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTD
YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:XM_047446138
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNLIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETDKCSRTFFRMYLAFLEEFSW*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000390494 CLINVAR
dbSNP (RS) rs75862065 CLINVAR
GWAS Catalog GCST009148 GWAS Catalog
  GCST009151 GWAS Catalog
MedGen C2677567 CLINVAR
NCBI Gene PRKRA CLINVAR
OMIM 603424 CLINVAR
  612067 CLINVAR