RGD:15127000 Rat Genome Database

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Variant: RGD:15127000 -  Homo sapiens

RGD ID: 15127000
RS ID: rs34554757
ClinVar ID: CV709309
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLN  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 2,087,404
GRCh38 4 2,085,677
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181808.4:c.2133T>G
NG_046934.1:g.161488T>G
NC_000004.12:g.2085677A>C
NC_000004.11:g.2087404A>C
More... 		01/31/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POLN
Accession:NM_181808
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 711
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENYEALVGFDLCNTPLSSVAQKIMSAMHSGDLVDSKTWGKSTETMEVINKSSVKYSVQLEDRKTQSPEKKDLKSLRSQT
SRGSAKLSPQSFSVRLTDQLSADQKQKSISSLTLSSCLIPQYNQEASVLQKKGHKRKHFLMENINNENKGSINLKRKHIT
YNNLSEKTSKQMALEEDTDDAEGYLNSGNSGALKKHFCDIRHLDDWAKSQLIEMLKQAAALVITVMYTDGSTQLGADQTP
VSSVRGIVVLVKRQAEGGHGCPDAPACGPVLEGFVSDDPCIYIQIEHSAIWDQEQEAHQQFARNVLFQTMKCKCPVICFN
AKDFVRIVLQFFGNDGSWKHVADFIGLDPRIAAWLIDPSDATPSFEDLVEKYCEKSITVKVNSTYGNSSRNIVNQNVREN
LKTLYRLTMDLCSKLKDYGLWQLFRTLELPLIPILAVMESHAIQVNKEEMEKTSALLGARLKELEQEAHFVAGERFLITS
NNQLREILFGKLKLHLLSQRNSLPRTGLQKYPSTSEAVLNALRDLHPLPKIILEYRQVHKIKSTFVDGLLACMKKGSISS
TWNQTGTVTGRLSAKHPNIQGISKHPIQITTPKNFKGKEDKILTISPRAMFVSSKGHTFLAADFSQIELRILTHLSGDPE
LLKLFQESERDDVFSTLTSQWKDVPVEQVTHADREQTKKVVYAVVYGAGKERLAACLGVPIQEAAQFLESLLQKYKKIKD
FARAAIAQCHQTGCVVSIMGRRRPLPRIHAHDQQLRAQAERQAVNFVVQGSAADLCKLAMIHVFTAVAASHTLTARLVAQ
IHDELLFEVEDPQIPECAALVRRTMESLEQVQALELQLQVPLKVSLSAGRSWGHLVPLQEAWGPPPGPCRTESPSNSLAA
PGSPASTQPPPLHFSPSFCL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000963831 CLINVAR
dbSNP (RS) rs34554757 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLN CLINVAR
OMIM 610887 CLINVAR