RGD:405052232 Rat Genome Database

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Variant: RGD:405052232 -  Homo sapiens

RGD ID: 405052232
ClinVar ID: CV3151239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 137,801,373
GRCh38 7 138,116,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001190906.2:c.823G>A
NM_001190907.2:c.863G>A
NM_005989.4:c.946G>A
NG_023342.1:g.45196G>A
More...
11/01/2022 missense variant uncertain significance none provided

Gene Symbol:AKR1D1
Accession:XM_047420763
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDE
NGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVI
TAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEM
KDIEALNKNVRFVELLMWRNHPEYPFHDEY*

Gene Symbol:AKR1D1
Accession:NM_001190906
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEVECHPYFT
QPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIK
ENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRNHPEYPFHDEY*

Gene Symbol:AKR1D1
Accession:NM_001190907
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
GLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQVAQSS*

Gene Symbol:AKR1D1
Accession:NM_005989
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRRE
DIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
GLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRNHPEY
PFHDEY*

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PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003849648 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 604741 CLINVAR