Product Details

SNP ID

rs146852030

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:26794672 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACGGGCTGGTCAGTGTTGGCTTCC[C/T]CATGCATTCTCAATGCCAAGGCTTT

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	1327	Missense Mutation	CCC,CTC	P213L	NP_001189483.1
NM_017837.3	1327	Missense Mutation	CCC,CTC	P213L	NP_060307.2

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