RGD:15144523 Rat Genome Database

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Variant: RGD:15144523 -  Homo sapiens

RGD ID: 15144523
RS ID: rs2292764
ClinVar ID: CV748757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 148,461,604
GRCh38 4 147,540,452
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.783T>C
NM_001957.4:c.1110T>C
NG_013343.1:g.64536T>C
NC_000004.12:g.147540452T>C
More... 		10/22/2021 non-coding transcript variant benign|likely benign Migraine with or without aura, susceptibility to, 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDNRA
Accession:NM_001166055
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKITSAFK
YINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKFYQDVKDWWLFGFYFCMPLV
CTAIFYTLMTCEMLNRRNGSLRIALSEHLKQRREVAKTVFCLVVIFALCWFPLHLSRILKKTVYNEMDKNRCELLSFLLL
MDYIGINLATMNSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPMNGTSIQWKNHDQNNHNTDRSSHKDSMN*

Gene Symbol:EDNRA
Accession:NM_001957
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 370
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_148963
Location:EXON;NON-CODING

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

Gene Symbol:EDNRA
Accession:NM_001354797
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000922381 CLINVAR
  RCV002495542 CLINVAR
dbSNP (RS) rs2292764 CLINVAR
MedGen C3661900 CLINVAR
  C4225349 CLINVAR
NCBI Gene EDNRA CLINVAR
OMIM 131243 CLINVAR
  157300 CLINVAR
  616367 CLINVAR