Product Details

SNP ID

rs59589815

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18175171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGGAGCTCTTCCCAACATGGCT[A/G]TTGGTCATGGAGATCCTCAATGTCA

Phenotype

MIM: 604664 MIM: 603157

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IFI30 PubMed Links

Gene Details

Gene

IFI30

Gene Name

IFI30, lysosomal thiol reductase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006332.4	326	Silent Mutation	CTA,CTG	L88L	NP_006323.2

Gene

PIK3R2

Gene Name

phosphoinositide-3-kinase regulatory subunit 2

There are no transcripts associated with this gene.

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