RGD:15185759 Rat Genome Database

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Variant: RGD:15185759 -  Homo sapiens

RGD ID: 15185759
RS ID: rs141224088
ClinVar ID: CV720935
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 24,801,260
GRCh38 4 24,799,638
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.117C>T
NG_012213.1:g.9176C>T
NC_000004.12:g.24799638C>T
NC_000004.11:g.24801260C>T
More... 		08/01/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SOD3
Accession:NM_003102
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLALLCSCLLLAAGASDAWTGEDSAEPNSDSAEWIRDMYAKVTEIWQEVMQRRDDDGALHAACQVQPSATLDAAQPRVTG
VVLFRQLAPRAKLDAFFALEGFPTEPNSSSRAIHVHQFGDLSQGCESTGPHYNPLAVPHPQHPGDFGNFAVRDGSLWRYR
AGLAASLAGPHSIVGRAVVVHAGEDDLGRGGNQASVENGNAGRRLACCVVGVCGPGLWERQAREHSERKKRRRESECKAA
*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000886785 CLINVAR
  RCV003930677 CLINVAR
dbSNP (RS) rs141224088 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SOD3 CLINVAR
OMIM 185490 CLINVAR