RGD:15140287 Rat Genome Database

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Variant: RGD:15140287 -  Homo sapiens

RGD ID: 15140287
RS ID: rs1578771203
ClinVar ID: CV748755
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 148,407,076
GRCh38 4 147,485,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.11:g.148407076C>T
NR_045958.2:n.593C>T
NM_001957.3:c.243C>T
NP_001341726.1:p.Tyr81=
More... 		05/22/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EDNRA
Accession:NM_001166055
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKITSAFK
YINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKFYQDVKDWWLFGFYFCMPLV
CTAIFYTLMTCEMLNRRNGSLRIALSEHLKQRREVAKTVFCLVVIFALCWFPLHLSRILKKTVYNEMDKNRCELLSFLLL
MDYIGINLATMNSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPMNGTSIQWKNHDQNNHNTDRSSHKDSMN*

Gene Symbol:EDNRA
Accession:NM_001354797
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKITSAFK
YINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKLLAGRWPFDHNDFGVFLCKL
FPFLQKSSVGITVLNLCALSVDSRLKAPFRGQTWNCKTSF*

Gene Symbol:EDNRA
Accession:NM_001957
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKITSAFK
YINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKLLAGRWPFDHNDFGVFLCKL
FPFLQKSSVGITVLNLCALSVDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFVMVPFEYRGEQHKTCM
LNATSKFMEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQRREVAKTVFCLVVIFALCWF
PLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATMNSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPM
NGTSIQWKNHDQNNHNTDRSSHKDSMN*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000921654 CLINVAR
dbSNP (RS) rs1578771203 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EDNRA CLINVAR
OMIM 131243 CLINVAR