Product Details

SNP ID
rs200548885
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:77898273 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATTAGCTTTGAACTTTAAGCAC[A/G]ACTGCTTTTCCTCCAAGGACTGTTT
Phenotype
MIM: 131244
Polymorphism
A/G, 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 1679 Missense Mutation TCG,TTG S419L NP_000106.1
NM_001122659.2 1679 Missense Mutation TCG,TTG S419L NP_001116131.1
NM_001201397.1 1679 Missense Mutation TCG,TTG S509L NP_001188326.1
NM_003991.3 1679 Intron NP_003982.1
Gene
EDNRB-AS1
Gene Name
EDNRB antisense RNA 1
There are no transcripts associated with this gene.

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