RGD:401879475 Rat Genome Database

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Variant: RGD:401879475 -  Homo sapiens

RGD ID: 401879475
ClinVar ID: CV2785140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP26A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 94,833,831
GRCh38 10 93,074,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_057157.2:c.-18-234G>A
NM_000783.4:c.140G>A
NG_008067.1:g.5600G>A
NC_000010.11:g.93074074G>A
More... 		08/05/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP26A1
Accession:NM_057157
Location:5UTRS;INTRON

Gene Symbol:CYP26A1
Accession:NM_000783
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLPALLASALCTFVLPLLLFLAAIKLWDLYCVSGRDRSCALPLPPETMGFPFFGETLQMVLQRRKFLQMKRRKYGFIYK
THLFGRPTVRVMGADNVRRILLGEHRLVSVHWPASVRTILGSGCLSNLHDSSHKQRKKVIMRAFSREALECYVPVITEEV
GSSLEQWLSCGERGLLVYPEVKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLFSLPIDVPFSGLYRGMKAR
NLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWERGERLDMQALKQSSTELLFGGHETTASAATSLITYLGLYP
HVLQKVREELKSKGLLCKSNQDNKLDMEILEQLKYIGCVIKETLRLNPPVPGGFRVALKTFELNGYQIPKGWNVIYSICD
THDVAEIFTNKEEFNPDRFMLPHPEDASRFSFIPFGGGLRSCVGKEFAKILLKIFTVELARHCDWQLLNGPPTMKTSPTV
YPVDNLPARFTHFHGEI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004355141 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP26A1 CLINVAR
OMIM 602239 CLINVAR