RGD:14744547 Rat Genome Database

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Variant: RGD:14744547 -  Homo sapiens

RGD ID: 14744547
RS ID: rs778591
ClinVar ID: CV660662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA2  TMCO6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,025,484
GRCh38 5 140,645,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021417.1:g.6887C>T
NC_000005.10:g.140645899G>A
NC_000005.9:g.140025484G>A
NM_002488.5:c.209-221C>T
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TMCO6
Accession:XM_024446124
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417356
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_018502
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417355
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537665
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417354
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417357
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300980
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417353
Location:INTRON

Gene Symbol:NDUFA2
Accession:NM_001185012
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_005268477
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537663
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_017009618
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417358
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300982
Location:INTRON

Gene Symbol:NDUFA2
Accession:NM_002488
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_024446125
Location:INTRON

Gene Symbol:NDUFA2
Accession:NR_033697
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000842831 CLINVAR
dbSNP (RS) rs778591 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFA2 CLINVAR
  TMCO6 CLINVAR
OMIM 602137 CLINVAR