RGD:11658746 Rat Genome Database

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Variant: RGD:11658746 -  Homo sapiens

RGD ID: 11658746
RS ID: rs886055058
ClinVar ID: CV283360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 169,779,599
GRCh38 2 168,923,089
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.168923089G>T
NC_000002.11:g.169779599G>T
NM_003742.2:c.*533C>A
NM_003742.4:c.*533C>A
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCB11
Accession:NM_003742
Location:3UTRS;EXON

Gene Symbol:ABCB11
Accession:XM_011512078
Location:3UTRS;EXON

Gene Symbol:ABCB11
Accession:XM_006712817
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_017005166
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_011512080
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_017005167
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_017005165
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000351385 CLINVAR
dbSNP (RS) rs886055058 CLINVAR
MedGen C3489789 CLINVAR
NCBI Gene ABCB11 CLINVAR
OMIM 601847 CLINVAR
  603201 CLINVAR