RGD:401888430 Rat Genome Database

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Variant: RGD:401888430 -  Homo sapiens

RGD ID: 401888430
ClinVar ID: CV2784985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNHIT3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 34,851,141
GRCh38 17 36,495,297
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281433.2:c.*84G>A
NM_001281434.2:c.193G>A
NM_001281432.2:c.286+1291G>A
NM_004773.4:c.361G>A
More... 		08/04/2023 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNHIT3
Accession:NM_001281433
Location:3UTRS;EXON

Gene Symbol:ZNHIT3
Accession:NM_004773
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNS
DEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQGKDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES*

Gene Symbol:ZNHIT3
Accession:NM_001281434
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKGESATLRSLLLNPHLRQLMVNLDQGKDKAKLMRAYMQEPLF
VEFADCCLGIVEPSQNEES*

Gene Symbol:ZNHIT3
Accession:NR_104010
Location:EXON;NON-CODING

Gene Symbol:ZNHIT3
Accession:NR_104009
Location:EXON;NON-CODING

Gene Symbol:ZNHIT3
Accession:NM_001281432
Location:INTRON

Gene Symbol:ZNHIT3
Accession:NR_104011
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003367801 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNHIT3 CLINVAR
OMIM 604500 CLINVAR