RGD:155731415 Rat Genome Database

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Variant: RGD:155731415 -  Homo sapiens

RGD ID: 155731415
ClinVar ID: CV1814322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 74,168,526
GRCh38 11 74,457,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_439t1:c.83A>G
NM_005472.5:c.83A>G
LRG_439:g.15075A>G
NG_011833.1:g.15075A>G
More... 		09/08/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNE3
Accession:XM_017017049
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_011544713
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHRVAALGPPSVRGRRVQRANGRPGALLRGRASTESSPTSIPVAMETTNGTETWYESLHAVLKALNATLHSSLLCRPGPG
LGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426176
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426177
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017047
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017051
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:NM_005472
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017048
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSSLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002434889 CLINVAR
  RCV003505243 CLINVAR
MedGen C2751089 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNE3 CLINVAR
OMIM 604433 CLINVAR
  613119 CLINVAR