RGD:13796136 Rat Genome Database

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Variant: RGD:13796136 -  Homo sapiens

RGD ID: 13796136
RS ID: rs747045005
ClinVar ID: CV551797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE2  LOC105372791  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 35,742,844
GRCh38 21 34,370,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.8:g.35742844A>T
NC_000021.9:g.34370545A>T
NP_751951.1:p.Met23Leu
LRG_291:g.11522A>T
More... 		03/08/2018 missense variant uncertain significance Long QT syndrome 6; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNE2
Accession:NM_172201
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTLSNFTQTLEDVFRRIFITYLDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMFSFIIVAILVSTVKSKRREHS
NDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFKMSP*

Gene Symbol:LOC105372791
Accession:NR_188571
Location:EXON;NON-CODING

Gene Symbol:LOC105372791
Accession:NR_188572
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24144883   PMID:24796621   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000678938 CLINVAR
  RCV002360705 CLINVAR
  RCV002485568 CLINVAR
  RCV003432724 CLINVAR
dbSNP (RS) rs747045005 CLINVAR
MedGen C1862394 CLINVAR
  C3150953 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNE2 CLINVAR
  LOC105372791 CLINVAR
OMIM 603796 CLINVAR
  611493 CLINVAR
  613693 CLINVAR