RGD:15166555 Rat Genome Database

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Variant: RGD:15166555 -  Homo sapiens

RGD ID: 15166555
RS ID: rs774253578
ClinVar ID: CV757825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127894728  RIPK4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 43,161,166
GRCh38 21 41,741,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020639.3:c.2187C>T
NG_032113.1:g.31084C>T
NG_032113.2:g.31084C>T
NC_000021.9:g.41741006G>A
More... 		05/23/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RIPK4
Accession:NM_020639
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 729
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGDGGTPWALALLRTFDAGEFTGWEKVGSGGFGQVYKVRHVHWKTWLAIKCSPSLHVDDRERMELLEEAKKMEMAKFRY
ILPVYGICREPVGLVMEYMETGSLEKLLASEPLPWDLRFRIIHETAVGMNFLHCMAPPLLHLDLKPANILLDAHYHVKIS
DFGLAKCNGLSHSHDLSMDGLFGTIAYLPPERIREKSRLFDTKHDVYSFAIVIWGVLTQKKPFADEKNILHIMVKVVKGH
RPELPPVCRARPRACSHLIRLMQRCWQGDPRVRPTFQEITSETEDLCEKPDDEVKETAHDLDVKSPPEPRSEVVPARLKR
ASAPTFDNDYSLSELLSQLDSGVSQAVEGPEELSRSSSESKLPSSGSGKRLSGVSSVDSAFSSRGSLSLSFEREPSTSDL
GTTDVQKKKLVDAIVSGDTSKLMKILQPQDVDLALDSGASLLHLAVEAGQEECAKWLLLNNANPNLSNRRGSTPLHMAVE
RRVRGVVELLLARKISVNAKDEDQWTALHFAAQNGDESSTRLLLEKNASVNEVDFEGRTPMHVACQHGQENIVRILLRRG
VDVSLQGKDAWLPLHYAAWQGHLPIVKLLAKQPGVSVNAQTLDGRTPLHLAAQRGHYRVARILIDLCSDVNVCSLLAQTP
LHVAAETGHTSTARLLLHRGAGKEAMTSDGYTALHLAARNGHLATVKLLVEEKADVLARGPLNQTALHLAAAHGHSEVVE
ELVSADVIDLFDEQGLSALHLAAQGRHAQTVETLLRHGAHINLQSLKFQGGHGPAATLLRRSKT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926895 CLINVAR
dbSNP (RS) rs774253578 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RIPK4 CLINVAR
OMIM 605706 CLINVAR