RGD:15122308 Rat Genome Database

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Variant: RGD:15122308 -  Homo sapiens

RGD ID: 15122308
RS ID: rs149877548
ClinVar ID: CV782696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPO  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 100,319,314
GRCh38 7 100,721,691
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.147C>G
NG_021471.2:g.5892C>G
NC_000007.14:g.100721691C>G
NC_000007.13:g.100319314C>G
More... 		12/05/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EPO
Accession:NM_000799
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHCSLNENITVPDTKVNFYAWKR
MEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTI
TADTFRKLFRVYSNFLRGKLKLYTGEACRTGDR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000979623 CLINVAR
dbSNP (RS) rs149877548 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EPO CLINVAR
OMIM 133170 CLINVAR