RGD:127275508 Rat Genome Database

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Variant: RGD:127275508 -  Homo sapiens

RGD ID: 127275508
RS ID: rs202169020
ClinVar ID: CV1107370
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE2  LOC105372791  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 35,743,005
GRCh38 21 34,370,706
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172201.2:c.228A>G
LRG_291:g.11683A>G
NG_008804.1:g.11683A>G
NC_000021.9:g.34370706A>G
More... 		07/13/2020 synonymous variant likely benign Long QT syndrome 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNE2
Accession:NM_172201
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMFSFIIVAILVSTVKSKRREHS
NDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFKMSP*

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001432402 CLINVAR
  RCV002456713 CLINVAR
  RCV002476755 CLINVAR
dbSNP (RS) rs202169020 CLINVAR
MedGen C1862394 CLINVAR
  C3150953 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNE2 CLINVAR
  LOC105372791 CLINVAR
OMIM 603796 CLINVAR
  611493 CLINVAR
  613693 CLINVAR