RGD:150419179 Rat Genome Database

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Variant: RGD:150419179 -  Homo sapiens

RGD ID: 150419179
RS ID: rs1360989040
ClinVar ID: CV1193531
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404060  NDUFA2  TMCO6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,027,141
GRCh38 5 140,647,556
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001185012.2:c.28G>A
NM_002488.5:c.28G>A
NG_021417.1:g.5230G>A
NC_000005.10:g.140647556C>T
More... 		06/24/2021 missense variant uncertain significance 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: V to I (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAASRGIGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYASRVQNS*

Gene Symbol:NDUFA2
Accession:NM_002488
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAASRGIGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYAFGQETNVPLN
NFSADQVTRALENVLSGKA*

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

Gene Symbol:TMCO6
Accession:XM_017009618
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300980
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417356
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417355
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537663
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_024446125
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417358
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_024446124
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_005268477
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417353
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_018502
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300982
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417357
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537665
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001569568 CLINVAR
dbSNP (RS) rs1360989040 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFA2 CLINVAR
  TMCO6 CLINVAR
OMIM 602137 CLINVAR