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- SNP ID:
- rs80356733
- Gene
-
MASP2TARDBP - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 11022451 - 11022451 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
GTTAGCCAGCCAGCAGAACCAGTCA[G/T]GCCCATCGGGTAATAACCAAAACCA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
|
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Phenotype: |
MIM: 605102
MIM: 605078
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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 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| TARDBP - TAR DNA binding protein | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_007375.3 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | NP_031401.1 | |
| XM_017000863.1 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | XP_016856352.1 | |
| XM_017000864.1 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | XP_016856353.1 | |
| XM_017000865.1 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | XP_016856354.1 | |
| XM_017000866.1 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | XP_016856355.1 | |
| XM_017000867.1 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | XP_016856356.1 | |
| XM_017000868.1 | 1164 | Missense Mutation | GGC,TGC | G,C 348 | XP_016856357.1 | |
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