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ATGAGACAGATGCTTCATCAGCAGT[A/G]AAAGTGAAAAGAGCAGTCCAGAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 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 |
---|---|---|
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 |
MASP2 - mannan binding lectin serine peptidase 2 | ||||||
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There are no transcripts associated with this gene. |
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 | 404 | Silent Mutation | GTA,GTG | V,V 94 | NP_031401.1 | |
XM_017000863.1 | 404 | Silent Mutation | GTA,GTG | V,V 94 | XP_016856352.1 | |
XM_017000864.1 | 404 | Silent Mutation | GTA,GTG | V,V 94 | XP_016856353.1 | |
XM_017000865.1 | 404 | Silent Mutation | GTA,GTG | V,V 94 | XP_016856354.1 | |
XM_017000866.1 | 404 | Silent Mutation | GTA,GTG | V,V 94 | XP_016856355.1 | |
XM_017000867.1 | 404 | Silent Mutation | GTA,GTG | V,V 94 | XP_016856356.1 | |
XM_017000868.1 | 404 | Silent Mutation | GTA,GTG | V,V 94 | XP_016856357.1 |