RGD:15195876 Rat Genome Database

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Variant: RGD:15195876 -  Homo sapiens

RGD ID: 15195876
RS ID: rs73409075
ClinVar ID: CV722197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,320,670
GRCh38 7 100,723,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000799.4:c.496C>T
NG_021471.2:g.7248C>T
NC_000007.14:g.100723047C>T
NC_000007.13:g.100320670C>T
More... 		03/01/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EPO
Accession:NM_000799
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHCSLNENITVPDTKVNFYAWKR
MEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTI
TADTFCKLFRVYSNFLRGKLKLYTGEACRTGDR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000889626 CLINVAR
dbSNP (RS) rs73409075 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EPO CLINVAR
OMIM 133170 CLINVAR