RGD:152981284 Rat Genome Database

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Variant: RGD:152981284 -  Homo sapiens

RGD ID: 152981284
RS ID: rs2126474873
ClinVar ID: CV1676730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRA  LOC124900795  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 148,453,852
GRCh38 4 147,532,700
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.421-3177T>C
NG_013343.1:g.56784T>C
NC_000004.12:g.147532700T>C
NC_000004.11:g.148453852T>C
More... 		05/04/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EDNRA
Accession:NM_001957
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKITSAFK
YINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKLLAGRWPFDHNDFGVFLCKL
FPFLQKSSVGITVLNLCALSVDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFVMVPFEYRGEQHKTCM
LNATSKFTEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQRREVAKTVFCLVVIFALCWF
PLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATMNSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPM
NGTSIQWKNHDQNNHNTDRSSHKDSMN*

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

Gene Symbol:EDNRA
Accession:NM_001354797
Location:INTRON

Gene Symbol:EDNRA
Accession:NM_001166055
Location:INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002247794 CLINVAR
dbSNP (RS) rs2126474873 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EDNRA CLINVAR
OMIM 131243 CLINVAR