Search
LOADING 
- SNP ID:
- rs80356721
- Gene
-
MASP2TARDBP - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 11022290 - 11022290 on Build GRCh38
- Polymorphism:
- G/A, Transition substitution
- Context Sequence [VIC/FAM]:
CAGGGTGGATTTGGTAATAGCAGAG[G/A]GGGTGGAGCTGGTTTGGGAAACAAT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605102
MIM: 605078
|
||||||||||||||||||||||||||||||||||||||
Literature Links: |
MASP2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
| 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 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | NP_031401.1 | |
| XM_017000863.1 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | XP_016856352.1 | |
| XM_017000864.1 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | XP_016856353.1 | |
| XM_017000865.1 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | XP_016856354.1 | |
| XM_017000866.1 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | XP_016856355.1 | |
| XM_017000867.1 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | XP_016856356.1 | |
| XM_017000868.1 | 1003 | Missense Mutation | GAG,GGG | E,G 294 | XP_016856357.1 | |
Back To Top