RGD:127237619 Rat Genome Database

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Variant: RGD:127237619 -  Homo sapiens

RGD ID: 127237619
RS ID: rs2132688551
ClinVar ID: CV1077149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKG1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 53,921,670
GRCh38 10 52,161,910
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1135t1:c.1023A>G
NM_006258.4:c.1023A>G
NM_001098512.3:c.978A>G
NG_029982.1:g.1175760A>G
More... 		01/21/2020 5 prime utr variant likely benign
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:NM_006258
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANV
IAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESK
TFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYT
ACVVEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLG
ILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWE
GLRKGTLTPPIIPSVASPTDTSNFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:XM_017016413
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 240
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: G to G (synonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTRAQGISAEPQTYRSFHDLRQA
FRKFTKSERSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTM
GPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEET
HYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLVIDRDS
FKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDT
RQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGI
IYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLGILMYELLTGSPPFSG
PDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSV
ASPTDTSNFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:XM_011539952
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANV
IAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKFIREHNAGICYCCGPQKASNYGRRQRRSRHITWQEQKQERV
GEVPDF*

Gene Symbol:PRKG1
Accession:NM_001374782
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001397175 CLINVAR
dbSNP (RS) rs2132688551 CLINVAR
MedGen C3809513 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR
  615436 CLINVAR