RGD:28872518 Rat Genome Database

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Variant: RGD:28872518 -  Homo sapiens

RGD ID: 28872518
RS ID: rs554075376
ClinVar ID: CV869617
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902894  SLCO1B3  SLCO1B3-SLCO1B7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 21,069,690
GRCh38 12 20,916,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001349920.2:c.*509T>C
NC_000012.11:g.21069690T>C
NM_019844.3:c.*509T>C
NM_019844.4:c.*509T>C
More... 		04/27/2017 3 prime utr variant uncertain significance Hyperbilirubinemia, Rotor type; HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLCO1B3
Accession:NM_019844
Location:3UTRS;EXON

Gene Symbol:SLCO1B3
Accession:NM_001349920
Location:3UTRS;EXON

Gene Symbol:LOC124902894
Accession:XM_047429949
Location:5UTRS;INTRON

Gene Symbol:SLCO1B3-SLCO1B7
Accession:NM_001371097
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114580 CLINVAR
dbSNP (RS) rs554075376 CLINVAR
MedGen C0220991 CLINVAR
NCBI Gene SLCO1B3 CLINVAR
  SLCO1B3-SLCO1B7 CLINVAR
OMIM 237450 CLINVAR
  605495 CLINVAR
SNOMED CT 32891000 CLINVAR