RGD:11550005 Rat Genome Database

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Variant: RGD:11550005 -  Homo sapiens

RGD ID: 11550005
RS ID: rs34703687
ClinVar ID: CV252624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 137,790,073
GRCh38 7 138,105,327
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.33896C>T
NC_000007.14:g.138105327C>T
NC_000007.13:g.137790073C>T
NP_005980.1:p.Asp159=
More... 		07/23/2018 intron variant benign AllHighlyPenetrant; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AKR1D1
Accession:NM_005989
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
GLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEY
PFHDEY*

Gene Symbol:AKR1D1
Accession:NM_001190907
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
GLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQVARSS*

Gene Symbol:AKR1D1
Accession:XM_047420763
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDE
NGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVI
TAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEM
KDIEALNKNVRFVELLMWRDHPEYPFHDEY*

Gene Symbol:AKR1D1
Accession:NM_001190906
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251170 CLINVAR
  RCV000965764 CLINVAR
  RCV001158878 CLINVAR
dbSNP (RS) rs34703687 CLINVAR
MedGen C1856127 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 235555 CLINVAR
  604741 CLINVAR