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CAGCCAGATGTTGGCACGGTTGCCC[G/T]ACTCGTAGAAACGTTCTTGAATCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
MBLAC2 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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MBLAC2 - metallo-beta-lactamase domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203406.1 | 288 | Nonsense Mutation | TAG,TCG | *,S 26 | NP_981951.1 |
POLR3G - RNA polymerase III subunit G | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006467.2 | 288 | Intron | NP_006458.2 | |||
XM_005248404.3 | 288 | Intron | XP_005248461.1 | |||
XM_011543100.2 | 288 | UTR 5 | XP_011541402.1 | |||
XM_011543101.2 | 288 | Intron | XP_011541403.1 | |||
XM_011543102.2 | 288 | Intron | XP_011541404.1 | |||
XM_011543103.2 | 288 | Intron | XP_011541405.1 | |||
XM_011543104.2 | 288 | Intron | XP_011541406.1 | |||
XM_011543105.2 | 288 | Intron | XP_011541407.1 | |||
XM_017008957.1 | 288 | Intron | XP_016864446.1 |