RGD:15147158 Rat Genome Database

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Variant: RGD:15147158 -  Homo sapiens

RGD ID: 15147158
RS ID: rs147606592
ClinVar ID: CV740702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNHIT3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 34,849,777
GRCh38 17 36,493,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281434.2:c.119-1290T>C
NM_001281433.2:c.206-27T>C
NR_104010.2:n.200T>C
NR_104009.2:n.227T>C
More...
02/11/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ZNHIT3
Accession:NM_004773
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNS
DEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES*

Gene Symbol:ZNHIT3
Accession:NM_001281432
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNS
DEEEDRVSLQNLKNLDGLSSCHPGWSAAAQSRLTATSPSQIQAILMPQPPEQLGLQAPATTPNQFLYF*

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

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

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

Gene Symbol:ZNHIT3
Accession:NM_001281433
Location:INTRON

Gene Symbol:ZNHIT3
Accession:NM_001281434
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000900459 CLINVAR
dbSNP (RS) rs147606592 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ZNHIT3 CLINVAR
OMIM 604500 CLINVAR