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GATTAAGTATCTTCCTGAAGAAAAT[A/G]GTAAGAATTAGTTCAAATGCACAGA
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 |
---|---|---|
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 |
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 | 136 | Missense Mutation | ATA,GTA | I,V 32 | NP_005579.2 | |
XM_011514628.1 | 136 | Missense Mutation | ATA,GTA | I,V 60 | XP_011512930.1 | |
XM_011514629.1 | 136 | Missense Mutation | ATA,GTA | I,V 32 | XP_011512931.1 |