RGD:15202344 Rat Genome Database

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Variant: RGD:15202344 -  Homo sapiens

RGD ID: 15202344
RS ID: rs1209170076
ClinVar ID: CV764918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404060  NDUFA2  TMCO6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,027,121
GRCh38 5 140,647,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002488.5:c.48G>A
NG_021417.1:g.5250G>A
NC_000005.10:g.140647536C>T
NC_000005.9:g.140027121C>T
More... 		07/11/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TMCO6
Accession:XM_047417354
Location:3UTRS;EXON

Gene Symbol:NDUFA2
Accession:NM_001185012
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYASRVQNS*

Gene Symbol:NDUFA2
Accession:NM_002488
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYAFGQETNVPLN
NFSADQVTRALENVLSGKA*

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

Gene Symbol:TMCO6
Accession:NM_018502
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417357
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417358
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300982
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_024446125
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_017009618
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537663
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537665
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_024446124
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300980
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417355
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_005268477
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417356
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417353
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000935919 CLINVAR
dbSNP (RS) rs1209170076 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFA2 CLINVAR
  TMCO6 CLINVAR
OMIM 602137 CLINVAR