Product Details

SNP ID

rs1042282

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:846183 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCAACCTCAGTGCCTCCGTCGCC[A/T]CAGTCCAGCTGCCACAGCAGGACCA

Phenotype

MIM: 130130 MIM: 177020

Polymorphism

A/T, Transversion 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	450	Missense Mutation	ACA,TCA	T136S	NP_002768.3
XM_011528136.1	450	Missense Mutation	ACA,TCA	T136S	XP_011526438.1

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