RGD:13466709 Rat Genome Database

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Variant: RGD:13466709 -  Homo sapiens

RGD ID: 13466709
RS ID: rs373675576
ClinVar ID: CV459930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902425  PRKG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 54,011,345
GRCh38 10 52,251,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029982.1:g.1265435G>A
NP_001091982.1:p.Ala349=
NP_006249.1:p.Ala364=
NM_006258.3:c.1092G>A
More... 		12/31/2019 synonymous variant likely benign none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKG1
Accession:NM_001374781
Location:5UTRS;EXON

Gene Symbol:PRKG1
Accession:XM_017016413
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 263
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVF
GELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEETHYENGE
YIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLVIDRDSFKHLIG
GLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHI
RSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGIIYRDLK
PENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLGILMYELLTGSPPFSGPDPMKT
YNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSVASPTDT
SNFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:NM_001098512
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTRAQGISAEPQTYRSFHDLRQA
FRKFTKSERSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTM
GPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEET
HYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLVIDRDS
FKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDT
RQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGI
IYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLGILMYELLTGSPPFSG
PDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSV
ASPTDTSNFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:NM_006258
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANV
IAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESK
TFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYT
ACVVEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLG
ILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWE
GLRKGTLTPPIIPSVASPTDTSNFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:NM_001374782
Location:INTRON

Gene Symbol:PRKG1
Accession:XM_011539952
Location:INTRON

Gene Symbol:LOC124902425
Accession:XR_007062145
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000543597 CLINVAR
  RCV001082713 CLINVAR
  RCV002315041 CLINVAR
  RCV003980043 CLINVAR
dbSNP (RS) rs373675576 CLINVAR
MedGen C3661900 CLINVAR
  C3809513 CLINVAR
  C4707243 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR
  615436 CLINVAR