RGD:156262260 Rat Genome Database

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Variant: RGD:156262260 -  Homo sapiens

RGD ID: 156262260
ClinVar ID: CV2319774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126859643  TRIM39  TRIM39-RPP21  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 30,308,095
GRCh38 6 30,340,318
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199119.1:c.804-187C>T
NM_001369521.2:c.804-187C>T
NM_001369522.1:c.804-187C>T
NM_001369523.1:c.804-187C>T
More... 		11/30/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRIM39
Accession:NM_021253
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSLLEAGASAASTAAALENLQVEASCSVCLEYLKEPVIIECGHNFCKACITRWWEDLERDFPCPVCRKTSRYRSLRP
NRQLGSMVEIAKQLQAVKRKIRDESLCPQHHEALSLFCYEDQEAVCLICAISHTHRAHTVVPLDDATQEYKEKLQKCLEP
LEQKLQEITRCKSSEEKKPGELKRLVESRRQQILREFEELHRRLDEEQQVLLSRLEEEEQDILQRLRENAAHLGDKRRDL
AHLAAEVEGKCLQSGFEMLKDVKSTLEKNIPRKFGGSLSTICPWDHKALLGLVKEINRCEKVKTMEVTSVSIELEKNFSN
FPRQYFALRKILKQLIADVTLDPETAHPNLVLSEDRKSVKFVETRLRDLPDTPRRFTFYPCVLATEGFTSGRHYWEVEVG
DKTHWAVGVCRDSVSRKGELTPLPETGYWRVRLWNGDKYAATTTPFTPLHIKVKPKRVGIFLDYEAGTLSFYNVTDRSHI
YTFTDTFTEKLWPLFYPGIRAGRKNAAPLTIRPPTDWE*

Gene Symbol:TRIM39
Accession:NM_172016
Location:INTRON

Gene Symbol:TRIM39-RPP21
Accession:NM_001199119
Location:INTRON

Gene Symbol:TRIM39
Accession:NM_001369523
Location:INTRON

Gene Symbol:TRIM39
Accession:NM_001369521
Location:INTRON

Gene Symbol:TRIM39
Accession:NM_001369522
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002959822 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LOC126859643 CLINVAR
  TRIM39 CLINVAR
  TRIM39-RPP21 CLINVAR
OMIM 605700 CLINVAR