RGD:401776878 Rat Genome Database

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Variant: RGD:401776878 -  Homo sapiens

RGD ID: 401776878
ClinVar ID: CV2711468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A10  UGT1A8  UGT1A9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 234,581,196
GRCh38 2 233,672,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021027.3:c.616A>G
NM_019075.4:c.855+35173A>G
NM_019076.5:c.855+53988A>G
NG_002601.2:g.87807A>G
More... 		04/17/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UGT1A9
Accession:NM_021027
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACTGWTSPLPLCVCLLLTCGFAEAGKLLVVPMDGSHWFTMRSVVEKLILRGHEVVVVMPEVSWQLGRSLNCTVKTYSTS
YTLEDLDREFKAFAHAQWKAQVRSIYSLLMGSYNDIFDLFFSNCRSLFKDKKLVEYLKESSFDAVFLDPFDNCGLIVAKY
FSLPSVVFARGILCHYLEEGAQCPAPLSYVPRILLGFSDAMTFKEGVRNHIMHLEEHLLCHRFFKNALEIASEILQTPVT
EYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIA
DALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR
METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTW
YQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*

Gene Symbol:UGT1A10
Accession:NM_019075
Location:INTRON

Gene Symbol:UGT1A8
Accession:NM_019076
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004306790 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A10 CLINVAR
  UGT1A8 CLINVAR
  UGT1A9 CLINVAR
OMIM 606433 CLINVAR
  606434 CLINVAR
  606435 CLINVAR