RGD:329352297 Rat Genome Database

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Variant: RGD:329352297 -  Homo sapiens

RGD ID: 329352297
ClinVar ID: CV2452320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCKAR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 26,483,462
GRCh38 4 26,481,840
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000730.2:c.1085C>A
NP_000721.1:p.Ser362Tyr
NM_000730.3:c.1085C>A
NC_000004.12:g.26481840G>T
More... 		02/15/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CCKAR
Accession:NM_000730
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVVDSLLVNGSNITPPCELGLENETLFCLDQPRPSKEWQPAVQILLYSLIFLLSVLGNTLVITVLIRNKRMRTVTNIFL
LSLAVSDLMLCLFCMPFNLIPNLLKDFIFGSAVCKTTTYFMGTSVSVSTFNLVAISLERYGAICKPLQSRVWQTKSHALK
VIAATWCLSFTIMTPYPIYSNLVPFTKNNNQTANMCRFLLPNDVMQQSWHTFLLLILFLIPGIVMMVAYGLISLELYQGI
KFEASQKKSAKERKPSTTSSGKYEDSDGCYLQKTRPPRKLELRQLSTGSSSRANRIRSNSSAANLMAKKRVIRMLIVIVV
LFFLCWMPIFSANAWRAYDTASAERRLSGTPISFILLLSYTYSCVNPIIYCFMNKRFRLGFMATFPCCPNPGPPGARGEV
GEEEEGGTTGASLSRFSYSHMSASVPPQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004272654 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CCKAR CLINVAR
OMIM 118444 CLINVAR