RGD:151862687 Rat Genome Database

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Variant: RGD:151862687 -  Homo sapiens

RGD ID: 151862687
RS ID: rs765457542
ClinVar ID: CV1338777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRA  LOC124900795  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 148,453,782
GRCh38 4 147,532,630
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166055.2:c.421-3247G>A
NM_001957.4:c.673G>A
NG_013343.1:g.56714G>A
NC_000004.12:g.147532630G>A
More...
08/30/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EDNRA
Accession:NM_001957
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKITSAFK
YINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKLLAGRWPFDHNDFGVFLCKL
FPFLQKSSVGITVLNLCALSVDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFIMVPFEYRGEQHKTCM
LNATSKFMEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQRREVAKTVFCLVVIFALCWF
PLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATMNSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPM
NGTSIQWKNHDQNNHNTDRSSHKDSMN*

Gene Symbol:EDNRA
Accession:NR_148963
Location:EXON;NON-CODING

Gene Symbol:EDNRA
Accession:NM_001166055
Location:INTRON

Gene Symbol:EDNRA
Accession:NM_001354797
Location:INTRON

Gene Symbol:EDNRA
Accession:NR_045958
Location:INTRON;NON-CODING

Gene Symbol:EDNRA
Accession:NR_148964
Location:INTRON;NON-CODING

Gene Symbol:LOC124900795
Accession:XR_007058311
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001997339 CLINVAR
dbSNP (RS) rs765457542 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EDNRA CLINVAR
OMIM 131243 CLINVAR