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GCCTGATCTAGGTTCATGGAGCCGG[C/G]GCTGTGGCTCCTTTTCGGGCTCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 131242 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDN3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EDN3 - endothelin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001302455.1 | 408 | Missense Mutation | GCG,GGG | A,G 4 | NP_001289384.1 | |
NM_001302456.1 | 408 | Missense Mutation | GCG,GGG | A,G 4 | NP_001289385.1 | |
NM_207032.2 | 408 | Missense Mutation | GCG,GGG | A,G 4 | NP_996915.1 | |
NM_207033.2 | 408 | Missense Mutation | GCG,GGG | A,G 4 | NP_996916.1 | |
NM_207034.2 | 408 | Missense Mutation | GCG,GGG | A,G 4 | NP_996917.1 | |
XM_005260312.4 | 408 | Missense Mutation | GCG,GGG | A,G 4 | XP_005260369.1 | |
XM_005260313.4 | 408 | Missense Mutation | GCG,GGG | A,G 4 | XP_005260370.1 | |
XM_006723734.3 | 408 | Missense Mutation | GCG,GGG | A,G 4 | XP_006723797.1 | |
XM_011528655.2 | 408 | Missense Mutation | GCG,GGG | A,G 4 | XP_011526957.1 |