Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGTCTTAGGCGCTGAGCTCAGCG[C/T]GGTGGGTGAGAACGGCGGGGAGAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 131240 | ||||||||||||||||||||
Literature Links: |
EDN1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EDN1 - endothelin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168319.1 | 423 | Missense Mutation | GCG,GTG | A,V 29 | NP_001161791.1 | |
NM_001955.4 | 423 | Missense Mutation | GCG,GTG | A,V 30 | NP_001946.3 | |
XM_011514330.2 | 423 | Missense Mutation | GCG,GTG | A,V 30 | XP_011512632.1 | |
XM_011514331.2 | 423 | Missense Mutation | GCG,GTG | A,V 30 | XP_011512633.1 | |
XM_011514332.2 | 423 | Missense Mutation | GCG,GTG | A,V 29 | XP_011512634.1 | |
XM_017010331.1 | 423 | Missense Mutation | GCG,GTG | A,V 30 | XP_016865820.1 |