RGD:15107113 Rat Genome Database

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Variant: RGD:15107113 -  Homo sapiens

RGD ID: 15107113
RS ID: rs1183580896
ClinVar ID: CV757291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 616,108
GRCh38 19 616,108
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001194.4:c.2304C>T
NG_023049.1:g.22461G>A
NG_052810.1:g.31216C>T
NC_000019.10:g.616108C>T
More... 		04/16/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HCN2
Accession:NM_001194
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 768
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDARGGGGRPGESPGATPAPGPPPPPPPAPPQQQPPPPPPPAPPPGPGPAPPQHPPRAEALPPEAADEGGPRGRLRSRDS
SCGRPGTPGAASTAKGSPNGECGRGEPQCSPAGPEGPARGPKVSFSCRGAASGPAPGPGPAEEAGSEEAGPAGEPRGSQA
SFMQRQFGALLQPGVNKFSLRMFGSQKAVEREQERVKSAGAWIIHPYSDFRFYWDFTMLLFMVGNLIIIPVGITFFKDET
TAPWIVFNVVSDTFFLMDLVLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIPVDYIFLIVEKGIDSEVYKTA
RALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVMRICNLISMMLLLCHWDGCLQFLVPMLQDFPRNCWV
SINGMVNHSWSELYSFALFKAMSHMLCIGYGRQAPESMTDIWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKY
KQVEQYMSFHKLPADFRQKIHDYYEHRYQGKMFDEDSILGELNGPLREEIVNFNCRKLVASMPLFANADPNFVTAMLTKL
KFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKEMKLSDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNE
VLEEYPMMRRAFETVAIDRLDRIGKKNSILLHKVQHDLNSGVFNNQENAIIQEIVKYDREMVQQAELGQRVGLFPPPPPP
PQVTSAIATLQQAAAMSFCPQVARPLVGPLALGSPRLVRRPPPGPAPAAASPGPPPPASPPGAPASPRAPRTSPYGGLPA
APLAGPALPARRLSRASRPLSASQPSLPHGAPGPAASTRPASSSTPRLGPTPAARAAAPSPDRRDSASPGAAGGLDPQDS
ARSRLSSNL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000915889 CLINVAR
dbSNP (RS) rs1183580896 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HCN2 CLINVAR
OMIM 602781 CLINVAR