rs11999 Rat Genome Database

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Variant: rs11999 -  Homo sapiens

RGD ID: 11605493
RS ID: rs11999
ClinVar ID: CV318307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FXYD2  FXYD6-FXYD2  LOC127822670  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 117,690,918
GRCh38 11 117,820,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011543.1:g.12890T>G
NC_000011.10:g.117820203A>C
NC_000011.9:g.117690918A>C
NM_001204268.3:c.*176T>G
More... 		01/13/2018 3 prime utr variant benign Magnesium loss, isolated renal; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FXYD6-FXYD2
Accession:NM_001243598
Location:3UTRS;EXON

Gene Symbol:FXYD6-FXYD2
Accession:NM_001204268
Location:3UTRS;EXON

Gene Symbol:FXYD2
Accession:NM_001680
Location:3UTRS;EXON

Gene Symbol:FXYD2
Accession:NM_021603
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000320155 CLINVAR
  RCV004708186 CLINVAR
dbSNP (RS) rs11999 CLINVAR
MedGen C1835171 CLINVAR
  C3661900 CLINVAR
NCBI Gene FXYD2 CLINVAR
  FXYD6-FXYD2 CLINVAR
OMIM 154020 CLINVAR
  601814 CLINVAR