Product Details

SNP ID
rs183098321
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:11055829 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCGATCTGGCCGCTGGGGTAGGT[A/G]GGGATGGTGCAGTAGGCATAGGCCA
Phenotype
MIM: 605102 MIM: 182891
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MASP2 PubMed Links

Gene Details

Gene
MASP2
Gene Name
mannan binding lectin serine peptidase 2
There are no transcripts associated with this gene.

Gene
SRM
Gene Name
spermidine synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003132.2 808 Silent Mutation CCC,CCT P239P NP_003123.2
XM_017002179.1 808 Silent Mutation CCC,CCT P239P XP_016857668.1

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