rs565287436 Rat Genome Database

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Variant: rs565287436 -  Homo sapiens

RGD ID: 151754662
RS ID: rs565287436
ClinVar ID: CV1453868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 74,168,451
GRCh38 11 74,457,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_005463.1:p.Arg53Leu
NM_005472.5:c.158G>T
LRG_439:g.15150G>T
NG_011833.1:g.15150G>T
More... 		11/07/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNE3
Accession:XM_017017051
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017047
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:NM_005472
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_011544713
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHRVAALGPPSVRGRRVQRANGRPGALLRGRASTESSPTSIPVAMETTNGTETWYESLHAVLKALNATLHSNLLCRPGPG
LGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017049
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426177
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426176
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017048
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGLDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001913329 CLINVAR
dbSNP (RS) rs565287436 CLINVAR
MedGen C2751089 CLINVAR
NCBI Gene KCNE3 CLINVAR
OMIM 604433 CLINVAR
  613119 CLINVAR