rs17879876 Rat Genome Database

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Variant: rs17879876 -  Homo sapiens

RGD ID: 15153879
RS ID: rs17879876
ClinVar ID: CV720936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127400453  SOD3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 24,801,414
GRCh38 4 24,799,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003102.4:c.271G>A
NG_012213.1:g.9330G>A
NC_000004.12:g.24799792G>A
NC_000004.11:g.24801414G>A
More... 		10/01/2019 missense variant benign none provided; SOD3-related condition

Variant Details
Variant Transcripts
Gene Symbol:SOD3
Accession:NM_003102
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLALLCSCLLLAAGASDAWTGEDSAEPNSDSAEWIRDMYAKVTEIWQEVMQRRDDDGALHAACQVQPSATLDAAQPRVTG
VVLFRQLAPRTKLDAFFALEGFPTEPNSSSRAIHVHQFGDLSQGCESTGPHYNPLAVPHPQHPGDFGNFAVRDGSLWRYR
AGLAASLAGPHSIVGRAVVVHAGEDDLGRGGNQASVENGNAGRRLACCVVGVCGPGLWERQAREHSERKKRRRESECKAA
*

Gene Symbol:SOD3
Accession:XR_427488
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880100 CLINVAR
  RCV003930497 CLINVAR
dbSNP (RS) rs17879876 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SOD3 CLINVAR
OMIM 185490 CLINVAR