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TGGAACCCCAGGACACTATTCCTCC[A/C]ACAAACCACCTCTCTGTTTCACTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 605102 MIM: 605078 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MASP2 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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MASP2 - mannan binding lectin serine peptidase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006610.3 | 1979 | Silent Mutation | GTG,GTT | V,V 649 | NP_006601.2 | |
NM_139208.2 | 1979 | Intron | NP_631947.1 | |||
XM_017000097.1 | 1979 | Intron | XP_016855586.1 |
TARDBP - TAR DNA binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007375.3 | 1979 | Intron | NP_031401.1 | |||
XM_017000863.1 | 1979 | Intron | XP_016856352.1 | |||
XM_017000864.1 | 1979 | Intron | XP_016856353.1 | |||
XM_017000865.1 | 1979 | Intron | XP_016856354.1 | |||
XM_017000866.1 | 1979 | Intron | XP_016856355.1 | |||
XM_017000867.1 | 1979 | Intron | XP_016856356.1 | |||
XM_017000868.1 | 1979 | Intron | XP_016856357.1 |