Product Details

SNP ID

rs187244445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:196722470 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCATTGAGGACTTGCACACCTGC[C/T]GTCTCTTAATTAAACAGGACATTCC

Phenotype

MIM: 610276

Polymorphism

C/T, 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	391	Missense Mutation	CGT,TGT	R78C	NP_001159776.1
NM_017861.3	391	Missense Mutation	CGT,TGT	R78C	NP_060331.3

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