Product Details

SNP ID

rs113308763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:154537989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTACCTCCAGATACAAGCACTCCA[A/T]CAGAATTTACCGTCAATGTGTTAAT

Phenotype

MIM: 605961

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PLRG1 PubMed Links

Gene Details

Gene

PLRG1

Gene Name

pleiotropic regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201564.1	1369	Missense Mutation	GAT,GTT	D415V	NP_001188493.1
NM_002669.3	1369	Missense Mutation	GAT,GTT	D424V	NP_002660.1

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