RGD:156078162 Rat Genome Database

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Variant: RGD:156078162 -  Homo sapiens

RGD ID: 156078162
ClinVar ID: CV2291719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A10  UGT1A4  UGT1A5  UGT1A6  UGT1A7  UGT1A8  UGT1A9  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 234,628,151
GRCh38 2 233,719,505
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.855+46716G>T
NM_019075.4:c.856-47529G>T
NM_019076.5:c.856-47529G>T
NM_001072.4:c.861+25640G>T
More... 		08/30/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UGT1A4
Accession:NM_007120
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGLQVPLPRLATGLLLLLSVQPWAESGKVLVVPTDGSPWLSMREALRELHARGHQAVVLTPEVNMHIKEEKFFTLTAY
AVPWTQKEFDRVTLGYTQGFFETEHLLKRYSRSMAIMNNVSLALHRCCVELLHNEALIRHLNATSFDVVLTDPVNLCGAV
LAKYLSIPAVFFWRYIPCDLDFKGTQCPNPSSYIPKLLTTNSDHMTFLQRVKNMLYPLALSYICHTFSSPYASLASELFQ
REVSVVDLVSYASVWLFRGDFVMDYPRPIMPNMVFIGGINCANGKPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKA
MAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMD
NAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAH
DLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*

Gene Symbol:UGT1A5
Accession:NM_019078
Location:INTRON

Gene Symbol:UGT1A9
Accession:NM_021027
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_205862
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_001072
Location:INTRON

Gene Symbol:UGT1A7
Accession:NM_019077
Location:INTRON

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 RCV002887283 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A10 CLINVAR
  UGT1A4 CLINVAR
  UGT1A5 CLINVAR
  UGT1A6 CLINVAR
  UGT1A7 CLINVAR
  UGT1A8 CLINVAR
  UGT1A9 CLINVAR
OMIM 606429 CLINVAR
  606430 CLINVAR
  606431 CLINVAR
  606432 CLINVAR
  606433 CLINVAR
  606434 CLINVAR
  606435 CLINVAR