rs753124330 Rat Genome Database

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Variant: rs753124330 -  Homo sapiens

RGD ID: 126728078
RS ID: rs753124330
ClinVar ID: CV1016851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 137,790,105
GRCh38 7 138,105,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001190906.2:c.457-1249A>G
NM_001190907.2:c.509A>G
NM_005989.4:c.509A>G
NG_023342.1:g.33928A>G
More...
03/25/2024 intron variant conflicting interpretations of pathogenicity|uncertain significance Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1016851Humancongenital bile acid synthesis defect 2  IAGP 8554872ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2ClinVarPMID:25741868


Gene Symbol:AKR1D1
Accession:NM_001190907
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
GLVKSLGVSSFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQVARSS*

Gene Symbol:AKR1D1
Accession:XM_047420763
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDE
NGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSSFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVI
TAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEM
KDIEALNKNVRFVELLMWRDHPEYPFHDEY*

Gene Symbol:AKR1D1
Accession:NM_005989
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
GLVKSLGVSSFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEY
PFHDEY*

Gene Symbol:AKR1D1
Accession:NM_001190906
Location:INTRON

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001332699 CLINVAR
dbSNP (RS) rs753124330 CLINVAR
MedGen C1856127 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 235555 CLINVAR
  604741 CLINVAR