RGD:15129490 Rat Genome Database

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Variant: RGD:15129490 -  Homo sapiens

RGD ID: 15129490
RS ID: rs372346318
ClinVar ID: CV710386
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRIM31  TRIM31-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 30,078,410
GRCh38 6 30,110,633
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_134871.2:n.669C>T
NM_007028.5:c.559C>T
NC_000006.12:g.30110633G>A
NC_000006.11:g.30078410G>A
More...
11/29/2021 missense variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRIM31
Accession:NM_007028
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASGQFVNKLQEEVICPICLDILQKPVTIDCGHNFCLKCITQIGETSCGFFKCPLCKTSVRKNAIRFNSLLRNLVEKIQA
LQASEVQSKRKEATCPRHQEMFHYFCEDDGKFLCFVCRESKDHKSHNVSLIEEAAQNYQGQIQEQIQVLQQKEKETVQVK
AQGVHRVDVFTDQVEHEKQRILTEFEILHQVLEEEKNFLLSRIYWLGHEGTEAGKHYVASTEPQLNDLKKLVDSLKTKQN
MPPRQLLEDIKVVLCRSEEFQFLNPTPVPLELEKKLSEAKSRHDSITGSLKKFKDQLQADRKKDENRFFKSMNKNDMKSW
GLLQKNNHKMNKTSEPGSSSAGGRTTSGPPNHHSSAPSHSLFRASSAGKVTFPVCLLASYDEISGQGASSQDTKTFDVAL
SEELHAALSEWLTAIRAWFCEVPSS*

Gene Symbol:TRIM31
Accession:XM_011514264
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASGQFVNKLQEEVICPICLDILQKPVTIDCGHNFCLKCITQIGETSCGFFKCPLCKTSVRKNAIRFNSLLRNLVEKIQA
LQASEVQSKRKEATCPRHQEMFHYFCEDDGKFLCFVCRESKDHKSHNVSLIEEAAQNYQGQIQEQIQVLQQKEKETVQVK
AQGVHRVDVFTDQVEHEKQRILTEFEILHQVLEEEKNFLLSRIYWLGHEGTEAGKHYVASTEPQLNDLKKLVDSLKTKQN
MPPRQLLEDIKVVLCSEEFQFLNPTPVPLELEKKLSEAKSRHDSITGSLKKFKDQLQADRKKDENRFFKSMNKNDMKSWG
LLQKNNHKMNKTSEPGSSSAGGRTTSGPPNHHSSAPSHSLFRASSAGKVTFPVCLLASYDEISGQGASSQDTKTFDVALS
EELHAALSEWLTAIRAWFCEVPSS*

Gene Symbol:TRIM31
Accession:XM_011514265
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASGQFVNKLQEEVICPICLDILQKPVTIDCGHNFCLKCITQIGETSCGFFKCPLCKTSVRKNAIRFNSLLRNLVEKIQA
LQASEVQSKRKEATCPRHQEMFHYFCEDDGKFLCFVCRESKDHKSHNVSLIEEAAQNYQGQIQEQIQVLQQKEKETVQVK
AQGVHRVDVFTDQVEHEKQRILTEFEILHQVLEEEKNFLLSRIYWLGHEGTEAGKHYVASTEPQLNDLKKLVDSLKTKQN
MPPRQLLEDIKVVLCRSEEFQFLNPTPVPLELEKKLSEAKSRHDSITGSLKKFKDQLQADRKKDENRFFKSMNKNDMKSW
GLLQKNNHKMNKTSEPGSSSAGGRTTSGPPNHHSSAPSHSLFRASSAGKVTFPVCLLASYDEISGQGASSQDTKTFDVAL
SEELHAALMEKGSPCSSPRTL*

Gene Symbol:TRIM31
Accession:XM_011514266
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASGQFVNKLQEEVICPICLDILQKPVTIDCGHNFCLKCITQIGETSCGFFKCPLCKTSVRKNAIRFNSLLRNLVEKIQA
LQASEVQSKRKEATCPRHQEMFHYFCEDDGKFLCFVCRESKDHKSHNVSLIEEAAQNYQGQIQEQIQVLQQKEKETVQVK
AQGVHRVDVFTDQVEHEKQRILTEFEILHQVLEEEKNFLLSRIYWLGHEGTEAGKHYVASTEPQLNDLKKLVDSLKTKQN
MPPRQLLEDIKVVLCSSTTSS*

Gene Symbol:TRIM31
Accession:XM_047418110
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASGQFVNKLQEEVICPICLDILQKPVTIDCGHNFCLKCITQIGETSCGFFKCPLCKTSVRKNAIRFNSLLRNLVEKIQA
LQASEVQSKRKEATCPRHQEMFHYFCEDDGKFLCFVCRESKDHKSHNVSLIEEAAQNYQGQIQEQIQVLQQKEKETVQVK
AQGVHRVDVFTDQVEHEKQRILTEFEILHQVLEEEKNFLLSRIYWLGHEGTEAGKHYVASTEPQLNDLKKLVDSLKTKQN
MPPRQLLEDIKVVLCSEEFQFLNPTPVPLELEKKLSEAKSRHDSITGSLKKFKDQLQADRKKDENRFFKSMNKNDMKSWG
LLQKNNHKMNKTSEPGSSSAGGRTTSGPPNHHSSAPSHSLFRASSAGKVTFPVCLLASYDEISGQGASSQDTKTFDVALS
EELHAALMEKGSPCSSPRTL*

Gene Symbol:TRIM31
Accession:NR_134871
Location:EXON;NON-CODING

Gene Symbol:TRIM31
Accession:NR_134870
Location:EXON;NON-CODING

Gene Symbol:TRIM31-AS1
Accession:NR_126470
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964266 CLINVAR
  RCV002547286 CLINVAR
dbSNP (RS) rs372346318 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRIM31 CLINVAR
  TRIM31-AS1 CLINVAR
OMIM 609316 CLINVAR