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TAAGGAGTGGCAGGAGCTGGATGAC[A/G]CAGAGAAGGTCCAGCGGGAGCCTCT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610145 MIM: 606223 | |||||||||||||||||||||||
Literature Links: |
ECE2 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 - 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 |
ECE2 - endothelin converting enzyme 2 | ||||||
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There are no transcripts associated with this gene. |
PSMD2 - proteasome 26S subunit, non-ATPase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278708.1 | 695 | Intron | NP_001265637.1 | |||
NM_001278709.1 | 695 | Intron | NP_001265638.1 | |||
NM_002808.4 | 695 | Missense Mutation | ACA,GCA | T,A 176 | NP_002799.3 |