RGD:156099545 Rat Genome Database

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Pathways
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Variant: RGD:156099545 -  Homo sapiens

RGD ID: 156099545
ClinVar ID: CV2367394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 234,527,074
GRCh38 2 233,618,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019076.5:c.721G>A
NG_002601.2:g.33685G>A
NC_000002.12:g.233618428G>A
NC_000002.11:g.234527074G>A
More... 		10/12/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UGT1A8
Accession:NM_019076
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARTGWTSPIPLCVSLLLTCGFAEAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLGKSLNCTVKTYSTS
YTLEDLDREFMDFADAQWKAQVRSLFSLFLSSSNGFFNLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPFDACGLIVAKY
FSLPSVVFARGIACHYLEEGAQCPAPLSYVPRILLGFSDAMTFKERVRNHIMHLEEHLFCQYFSKNALEIASEILQTPVT
TYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIA
DALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTW
YQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004209296 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A8 CLINVAR
OMIM 606433 CLINVAR