Product Details

SNP ID
rs147917971
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:59301625 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCAGGCGGCCGAGGGGGCCCCT[C/G]AGCACCACCGATCCAGGCGCTGCAC
Phenotype
MIM: 131242
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EDN3 PubMed Links

Gene Details

Gene
EDN3
Gene Name
endothelin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302455.1 665 Missense Mutation CAG,GAG Q90E NP_001289384.1
NM_001302456.1 665 Missense Mutation CAG,GAG Q90E NP_001289385.1
NM_207032.2 665 Missense Mutation CAG,GAG Q90E NP_996915.1
NM_207033.2 665 Missense Mutation CAG,GAG Q90E NP_996916.1
NM_207034.2 665 Missense Mutation CAG,GAG Q90E NP_996917.1
XM_005260312.4 665 Missense Mutation CAG,GAG Q90E XP_005260369.1
XM_005260313.4 665 Missense Mutation CAG,GAG Q90E XP_005260370.1
XM_006723734.3 665 Missense Mutation CAG,GAG Q90E XP_006723797.1
XM_011528655.2 665 Missense Mutation CAG,GAG Q90E XP_011526957.1

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