RGD:15201639 Rat Genome Database

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Variant: RGD:15201639 -  Homo sapiens

RGD ID: 15201639
RS ID: rs75174100
ClinVar ID: CV723084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 39,785,446
GRCh38 8 39,927,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002164.6:c.954G>A
NG_028155.1:g.19119G>A
NC_000008.11:g.39927927G>A
NC_000008.10:g.39785446G>A
More... 		04/25/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IDO1
Accession:NM_002164
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHAMENSWTISKEYHIDEEVGFALPNPQENLPDFYNDWMFIAKHLPDLIESGQLRERVEKLNMLSIDHLTDHKSQRLAR
LVLGCITMAYVWGKGHGDVRKVLPRNIAVPYCQLSKKLELPPILVYADCVLANWKKKDPNKPLTYENMDVLFSFRDGDCS
KGFFLVSLLVEIAAASAIKVIPTVFKAMQMQERDTLLKALLEIASCLEKALQVFHQIHDHVNPKAFFSVLRIYLSGWKGN
PQLSDGLVYEGFWEDPKEFAGGSAGQSSVFQCFDVLLGIQQTAGGGHAAQFLQDMRRYMPPAHRNFLCSLESNPSVREFV
LSKGDAGLREAYDACVKALVSLRSYHLQIVTKYILIPASQQPKENKTSEDPSKLEAKGTGGTDLMNFLKTVRSTTEKSLL
KEG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000891248 CLINVAR
dbSNP (RS) rs75174100 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IDO1 CLINVAR
OMIM 147435 CLINVAR