RGD:156245790 Rat Genome Database

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Variant: RGD:156245790 -  Homo sapiens

RGD ID: 156245790
ClinVar ID: CV2283452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A10  UGT1A8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 234,545,859
GRCh38 2 233,637,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019075.4:c.691G>A
NM_019076.5:c.855+18651G>A
NG_002601.2:g.52470G>A
NC_000002.12:g.233637213G>A
More... 		12/01/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UGT1A10
Accession:NM_019075
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARAGWTSPVPLCVCLLLTCGFAEAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLERSLNCTVKTYSTS
YTLEDQNREFMVFAHAQWKAQAQSIFSLLMSSSSGFLDLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPFDTCGLIVAKY
FSLPSVVFTRGIFCHHLEEGAQCPAPLSYVPNDLLGFSDAMTFKERVWNHIVHLEDHLFCQYLFRNALEITSEILQTPVT
AYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIA
DALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTW
YQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*

Gene Symbol:UGT1A8
Accession:NM_019076
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004139672 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A10 CLINVAR
  UGT1A8 CLINVAR
OMIM 606433 CLINVAR
  606435 CLINVAR