Product Details

SNP ID

rs139246652

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:26794135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCCCTCTTCAATGCCATCATCC[C/T]AGATCACCATGCAGAAGCCTTCTCT

Phenotype

MIM: 610274

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PIGV PubMed Links

Gene Details

Gene

PIGV

Gene Name

phosphatidylinositol glycan anchor biosynthesis class V

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202554.1	790	Missense Mutation	CCA,CTA	P34L	NP_001189483.1
NM_017837.3	790	Missense Mutation	CCA,CTA	P34L	NP_060307.2

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