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CACCTGGAATGTGTGGACCGAGGCT[C/G]CCGCATGGCCTCCTGTTGTCGCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 131241 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDN2 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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EDN2 - endothelin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001302269.1 | 581 | Missense Mutation | CAG,GAG | Q,E 134 | NP_001289198.1 | |
NM_001956.4 | 581 | Missense Mutation | CAG,GAG | Q,E 167 | NP_001947.1 | |
XM_017000512.1 | 581 | Nonsense Mutation | CAG,GAG | Q,E 121 | XP_016856001.1 |