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CCTTGCTGGAGGTTCCCATGGCCCC[A/G]AACTAACAGTGTTTTTCTGAAATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610302 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDEM2 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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EDEM2 - ER degradation enhancing alpha-mannosidase like protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145025.1 | 1554 | Missense Mutation | TCG,TTG | S,L 485 | NP_001138497.1 | |
NM_018217.2 | 1554 | Missense Mutation | TCG,TTG | S,L 522 | NP_060687.2 |