RGD:329400642 Rat Genome Database

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Variant: RGD:329400642 -  Homo sapiens

RGD ID: 329400642
ClinVar ID: CV2438601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 234,526,495
GRCh38 2 233,617,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.233617849C>T
NC_000002.11:g.234526495C>T
NM_019076.4:c.142C>T
NP_061949.3:p.Leu48Phe
More... 		01/24/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UGT1A8
Accession:NM_019076
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARTGWTSPIPLCVSLLLTCGFAEAGKLLVVPMDGSHWFTMQSVVEKFILRGHEVVVVMPEVSWQLGKSLNCTVKTYSTS
YTLEDLDREFMDFADAQWKAQVRSLFSLFLSSSNGFFNLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPFDACGLIVAKY
FSLPSVVFARGIACHYLEEGAQCPAPLSYVPRILLGFSDAMTFKERVRNHIMHLEEHLFCQYFSKNALEIASEILQTPVT
AYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIA
DALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTW
YQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004261772 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A8 CLINVAR
OMIM 606433 CLINVAR