Product Details

SNP ID
rs201243241
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:77898228 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGAGCTGTATTTATTACTGGAA[C/T]GGAAGTTGTCATATCCGTGATCATT
Phenotype
MIM: 131244
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EDNRB PubMed Links

Gene Details

Gene
EDNRB
Gene Name
endothelin receptor type B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000115.3 1724 Missense Mutation CAT,CGT H434R NP_000106.1
NM_001122659.2 1724 Missense Mutation CAT,CGT H434R NP_001116131.1
NM_001201397.1 1724 Missense Mutation CAT,CGT H524R NP_001188326.1
NM_003991.3 1724 Intron NP_003982.1
Gene
EDNRB-AS1
Gene Name
EDNRB antisense RNA 1
There are no transcripts associated with this gene.

View Full Product Details