RGD:15202956 Rat Genome Database

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Variant: RGD:15202956 -  Homo sapiens

RGD ID: 15202956
RS ID: rs114023160
ClinVar ID: CV699857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1B1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 134,132,753
GRCh38 7 134,448,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_144376.2:n.758G>A
NM_001346142.1:c.288G>A
NM_001628.4:c.720G>A
NC_000007.14:g.134448001C>T
More... 		03/05/2019 non-coding transcript variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AKR1B1
Accession:NM_001628
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLLLNNGAKMPILGLGTWKSPPGQVTEAVKVAIDVGYRHIDCAHVYQNENEVGVAIQEKLREQVVKREELFIVSKLW
CTYHEKGLVKGACQKTLSDLKLDYLDLYLIHWPTGFKPGKEFFPLDESGNVVPSDTNILDTWAAMEELVDEGLVKAIGIS
NFNHLQVEMILNKPGLKYKPAVNQIECHPYLTQEKLIQYCQSKGIVVTAYSPLGSPDRPWAKPEDPSLLEDPRIKAIAAK
HNKTTAQVLIRFPMQRNLVVIPKSVTPERIAENFKVFDFELSSQDMTTLLSYNRNWRVCALLSCTSHKDYPFHEEF*

Gene Symbol:AKR1B1
Accession:NM_001346142
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELVDEGLVKAIGISNFNHLQVEMILNKPGLKYKPAVNQIECHPYLTQEKLIQYCQSKGIVVTAYSPLGSPDRPWAKPE
DPSLLEDPRIKAIAAKHNKTTAQVLIRFPMQRNLVVIPKSVTPERIAENFKVFDFELSSQDMTTLLSYNRNWRVCALLSC
TSHKDYPFHEEF*

Gene Symbol:AKR1B1
Accession:NR_144376
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958130 CLINVAR
dbSNP (RS) rs114023160 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AKR1B1 CLINVAR
OMIM 103880 CLINVAR