RGD:329357970 Rat Genome Database

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Pathways
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Variant: RGD:329357970 -  Homo sapiens

RGD ID: 329357970
ClinVar ID: CV2427898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP26A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 94,835,632
GRCh38 10 93,075,875
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.707C>T
NM_000783.4:c.914C>T
NG_008067.1:g.7401C>T
NP_476498.1:p.Thr236Met
More... 		01/10/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP26A1
Accession:NM_000783
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLPALLASALCTFVLPLLLFLAAIKLWDLYCVSGRDRSCALPLPPGTMGFPFFGETLQMVLQRRKFLQMKRRKYGFIYK
THLFGRPTVRVMGADNVRRILLGEHRLVSVHWPASVRTILGSGCLSNLHDSSHKQRKKVIMRAFSREALECYVPVITEEV
GSSLEQWLSCGERGLLVYPEVKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLFSLPIDVPFSGLYRGMKAR
NLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWERGERLDMQALKQSSTELLFGGHETMASAATSLITYLGLYP
HVLQKVREELKSKGLLCKSNQDNKLDMEILEQLKYIGCVIKETLRLNPPVPGGFRVALKTFELNGYQIPKGWNVIYSICD
THDVAEIFTNKEEFNPDRFMLPHPEDASRFSFIPFGGGLRSCVGKEFAKILLKIFTVELARHCDWQLLNGPPTMKTSPTV
YPVDNLPARFTHFHGEI*

Gene Symbol:CYP26A1
Accession:NM_057157
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 236
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRRKYGFIYKTHLFGRPTVRVMGADNVRRILLGEHRLVSVHWPASVRTILGSGCLSNLHDSSHKQRKKVIMRAFSREAL
ECYVPVITEEVGSSLEQWLSCGERGLLVYPEVKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLFSLPIDVP
FSGLYRGMKARNLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWERGERLDMQALKQSSTELLFGGHETMASAA
TSLITYLGLYPHVLQKVREELKSKGLLCKSNQDNKLDMEILEQLKYIGCVIKETLRLNPPVPGGFRVALKTFELNGYQIP
KGWNVIYSICDTHDVAEIFTNKEEFNPDRFMLPHPEDASRFSFIPFGGGLRSCVGKEFAKILLKIFTVELARHCDWQLLN
GPPTMKTSPTVYPVDNLPARFTHFHGEI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004254289 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP26A1 CLINVAR
OMIM 602239 CLINVAR