RGD:127292045 Rat Genome Database

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Variant: RGD:127292045 -  Homo sapiens

RGD ID: 127292045
RS ID: rs2078016326
ClinVar ID: CV1129174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 46,733,666
GRCh38 22 46,337,769
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012173.1:g.7369C>G
NC_000022.10:g.46733666C>G
NM_001282782.2:c.-153-10C>G
NM_001282783.2:c.-172-10C>G
More... 		11/15/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_001282782
Location:5UTRS;INTRON

Gene Symbol:TRMU
Accession:NM_001282783
Location:5UTRS;INTRON

Gene Symbol:TRMU
Accession:NM_001282784
Location:5UTRS;INTRON

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:NM_018006
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530273
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530272
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282785
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Gene Symbol:TRMU
Accession:NR_104241
Location:INTRON;NON-CODING

Gene Symbol:TRMU
Accession:NR_104240
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001458887 CLINVAR
dbSNP (RS) rs2078016326 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR