RGD:155900826 Rat Genome Database

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Variant: RGD:155900826 -  Homo sapiens

RGD ID: 155900826
ClinVar ID: CV2241838
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A10  UGT1A8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 234,545,221
GRCh38 2 233,636,575
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_061948.1:p.Leu18Pro
NP_061948.1:p.Leu18Pro
NM_019075.4:c.53T>C
NM_019076.5:c.855+18013T>C
More... 		09/01/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UGT1A10
Accession:NM_019075
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARAGWTSPVPLCVCLLPTCGFAEAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLERSLNCTVKTYSTS
YTLEDQNREFMVFAHAQWKAQAQSIFSLLMSSSSGFLDLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPFDTCGLIVAKY
FSLPSVVFTRGIFCHHLEEGAQCPAPLSYVPNDLLGFSDAMTFKERVWNHIVHLEDHLFCQYLFRNALEIASEILQTPVT
AYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIA
DALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTW
YQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*

Gene Symbol:UGT1A8
Accession:NM_019076
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004106765 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A10 CLINVAR
  UGT1A8 CLINVAR
OMIM 606433 CLINVAR
  606435 CLINVAR