Product Details

SNP ID
rs150557105
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:861947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGCGCGGAGAGCAATCGCCGGGA[C/T]AGCTGCAAGGTGAGCCTTCAGGCCT
Phenotype
MIM: 134350 MIM: 130130 MIM: 604062
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CFD PubMed Links

Gene Details

Gene
CFD
Gene Name
complement factor D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317335.1 637 Silent Mutation GAC,GAT D209D NP_001304264.1
NM_001928.3 637 Silent Mutation GAC,GAT D202D NP_001919.2
Gene
ELANE
Gene Name
elastase, neutrophil expressed
There are no transcripts associated with this gene.

Gene
MED16
Gene Name
mediator complex subunit 16
There are no transcripts associated with this gene.

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