Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTCCGCTTCGTCCTTACCAGACTT[C/T]GCACTTGTGAGGCGGGTTCATGGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 600423 | ||||||||||||||||||||
Literature Links: |
ECE1 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 |
ECE1 - endothelin converting enzyme 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113347.1 | 2522 | Missense Mutation | AAA,GAA | K,E 756 | NP_001106818.1 | |
NM_001113348.1 | 2522 | Missense Mutation | AAA,GAA | K,E 752 | NP_001106819.1 | |
NM_001113349.1 | 2522 | Missense Mutation | AAA,GAA | K,E 765 | NP_001106820.1 | |
NM_001397.2 | 2522 | Missense Mutation | AAA,GAA | K,E 768 | NP_001388.1 | |
XM_006710398.2 | 2522 | Missense Mutation | AAA,GAA | K,E 751 | XP_006710461.1 | |
XM_011540872.2 | 2522 | Missense Mutation | AAA,GAA | K,E 776 | XP_011539174.1 | |
XM_011540873.2 | 2522 | Missense Mutation | AAA,GAA | K,E 751 | XP_011539175.1 | |
XM_017000511.1 | 2522 | Missense Mutation | AAA,GAA | K,E 751 | XP_016856000.1 |