Product Details

SNP ID
rs201961347
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:852351 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATGACCCTCGGCCGCCGACTCG[C/G]GTGTCTTTTCCTCGCCTGTGTCCTG
Phenotype
MIM: 134350 MIM: 130130 MIM: 177020
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CFD PubMed Links

Gene Details

Gene
CFD
Gene Name
complement factor D
There are no transcripts associated with this gene.

Gene
ELANE
Gene Name
elastase, neutrophil expressed
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001972.3 159 Missense Mutation GCG,GGG A8G NP_001963.1
XM_011527775.1 159 Missense Mutation GCG,GGG A8G XP_011526077.1
XM_011527776.1 159 Missense Mutation GCG,GGG A8G XP_011526078.1
Gene
PRTN3
Gene Name
proteinase 3
There are no transcripts associated with this gene.

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