rs116496600 Rat Genome Database

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Variant: rs116496600 -  Homo sapiens

RGD ID: 150489498
RS ID: rs116496600
ClinVar ID: CV1238952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,767,842
GRCh38 20 13,787,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001352403.2:c.-145-116T>C
NM_001352406.2:c.-359-116T>C
NM_001352407.2:c.-455T>C
NM_001039375.3:c.223-116T>C
More... 		08/14/2018 5 prime utr variant benign none provided

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:5UTRS;INTRON

Gene Symbol:NDUFAF5
Accession:NR_147983
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147982
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147981
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:INTRON

Gene Symbol:NDUFAF5
Accession:NR_029377
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:XR_937140
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147979
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147978
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147980
Location:INTRON;NON-CODING

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001654520 CLINVAR
dbSNP (RS) rs116496600 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR