RGD:11601487 Rat Genome Database

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Variant: RGD:11601487 -  Homo sapiens

RGD ID: 11601487
RS ID: rs73729460
ClinVar ID: CV309904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 137,802,287
GRCh38 7 138,117,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023342.1:g.46110T>C
NC_000007.14:g.138117541T>C
NC_000007.13:g.137802287T>C
NM_001190907.2:c.*904T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AKR1D1
Accession:XM_047420763
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_001190907
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_001190906
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_005989
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282399 CLINVAR
dbSNP (RS) rs73729460 CLINVAR
MedGen C1856127 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 235555 CLINVAR
  604741 CLINVAR