Product Details

SNP ID

rs148200539

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:846355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAACATTTGCACTTTCGTCCCTC[A/G]CCGCAAGGCCGGCATCTGCTTCGTA

Phenotype

MIM: 130130 MIM: 177020

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ELANE PubMed Links

Gene Details

Gene

ELANE

Gene Name

elastase, neutrophil expressed

There are no transcripts associated with this gene.

Gene

PRTN3

Gene Name

proteinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002777.3	622	Missense Mutation	CAC,CGC	H193R	NP_002768.3
XM_011528136.1	622	Missense Mutation	CAC,CGC	H193R	XP_011526438.1

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