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GCTCAGGGGCATGCTTGTCAGTCAG[C/T]ACCTGCAGGTAGATGGACTGCGACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605896 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ECEL1 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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ECEL1 - endothelin converting enzyme like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290787.1 | 2432 | Silent Mutation | GTA,GTG | V,V 730 | NP_001277716.1 | |
NM_004826.3 | 2432 | Silent Mutation | GTA,GTG | V,V 732 | NP_004817.2 |