RGD:11650486 Rat Genome Database

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Variant: RGD:11650486 -  Homo sapiens

RGD ID: 11650486
RS ID: rs886054738
ClinVar ID: CV283515
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDAR  RANBP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 109,511,828
GRCh38 2 108,895,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008257.1:g.99001C>T
NC_000002.12:g.108895372G>A
NC_000002.11:g.109511828G>A
NM_022336.4:c.*1535C>T
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EDAR
Accession:XM_006712204
Location:3UTRS;EXON

Gene Symbol:EDAR
Accession:NM_022336
Location:3UTRS;EXON

Gene Symbol:RANBP2
Accession:XM_005264007
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004624
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415873
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264002
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004625
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511578
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_047445367
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415871
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415872
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_006267
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511576
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511575
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292826 CLINVAR
  RCV001130849 CLINVAR
dbSNP (RS) rs886054738 CLINVAR
MedGen C0406701 CLINVAR
  CN239335 CLINVAR
NCBI Gene EDAR CLINVAR
  RANBP2 CLINVAR
OMIM 601181 CLINVAR
  604095 CLINVAR
  614941 CLINVAR