Product Details

SNP ID

rs199645579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:196722537 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCCGTATGAGTTGGCTTCATTAC[A/G]AGAGAGAAACATAACAGAGGTACAG

Phenotype

MIM: 610276

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PIGX PubMed Links

Gene Details

Gene

PIGX

Gene Name

phosphatidylinositol glycan anchor biosynthesis class X

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166304.1	458	Missense Mutation	CAA,CGA	Q100R	NP_001159776.1
NM_017861.3	458	Missense Mutation	CAA,CGA	Q100R	NP_060331.3

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