RGD:15097905 Rat Genome Database

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Variant: RGD:15097905 -  Homo sapiens

RGD ID: 15097905
RS ID: rs544093099
ClinVar ID: CV687722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 128,786,499
GRCh38 11 128,916,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354169.2:c.1133A>C
NG_023406.2:g.30187A>C
NC_000011.10:g.128916604A>C
NC_000011.9:g.128786499A>C
More... 		07/05/2022 missense variant benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:NM_001354169
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLPYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Gene Symbol:KCNJ5
Accession:XM_011542810
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLPYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*

Gene Symbol:KCNJ5
Accession:NM_000890
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT
LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK
CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS
SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLPYLPSPPLLGGCAEAGLDAEAEQ
NEEDEPKGLGGSREARGSV*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:28986455  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002442845 CLINVAR
  RCV002539046 CLINVAR
dbSNP (RS) rs544093099 CLINVAR
MedGen C0023976 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 600734 CLINVAR
SNOMED CT 9651007 CLINVAR