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GTGTCTACTATTGCCACCTGGACAT[C/T]ATTTGGATCAACACTCCCGAGTAAG
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 |
---|---|---|
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 |
EDN3 - endothelin 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001302455.1 | 742 | Silent Mutation | ATC,ATT | I,I 115 | NP_001289384.1 | |
NM_001302456.1 | 742 | Silent Mutation | ATC,ATT | I,I 115 | NP_001289385.1 | |
NM_207032.2 | 742 | Silent Mutation | ATC,ATT | I,I 115 | NP_996915.1 | |
NM_207033.2 | 742 | Silent Mutation | ATC,ATT | I,I 115 | NP_996916.1 | |
NM_207034.2 | 742 | Silent Mutation | ATC,ATT | I,I 115 | NP_996917.1 | |
XM_005260312.4 | 742 | Silent Mutation | ATC,ATT | I,I 115 | XP_005260369.1 | |
XM_005260313.4 | 742 | Silent Mutation | ATC,ATT | I,I 115 | XP_005260370.1 | |
XM_006723734.3 | 742 | Silent Mutation | ATC,ATT | I,I 115 | XP_006723797.1 | |
XM_011528655.2 | 742 | Silent Mutation | ATC,ATT | I,I 115 | XP_011526957.1 |