Product Details

SNP ID

rs143634717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:853296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGGTGCGGGTGGTCCTGGGAGCC[C/T]ATAACCTCTCGCGGCGGGAGCCCAC

Phenotype

MIM: 134350 MIM: 130130 MIM: 177020

Polymorphism

C/T, Transition 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	395	Missense Mutation	CAT,TAT	H87Y	NP_001963.1
XM_011527775.1	395	Missense Mutation	CAT,TAT	H87Y	XP_011526077.1
XM_011527776.1	395	Missense Mutation	CAT,TAT	H87Y	XP_011526078.1

Gene

PRTN3

Gene Name

proteinase 3

There are no transcripts associated with this gene.

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