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CTGAGAGACCCAAACACCAGGTGGA[A/C]GTTCCCCATTCCTTACATCTTGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600388 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MEP1A 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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MEP1A - meprin A subunit alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005588.2 | 269 | Missense Mutation | AAG,ACG | K,T 76 | NP_005579.2 | |
XM_011514628.1 | 269 | Missense Mutation | AAG,ACG | K,T 104 | XP_011512930.1 | |
XM_011514629.1 | 269 | Missense Mutation | AAG,ACG | K,T 76 | XP_011512931.1 |