Product Details

SNP ID

rs11554160

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18173937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGGCGTCCCCTCTGCAAGCGTT[A/G]GACTTCTTTGGGAATGGGCCACCAG

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	158	Silent Mutation	TTA,TTG	L32L	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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