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SNP ID

rs144390629

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:73854066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAAGAATGGGAGGAAAATTTGC[A/T]TGGATCTGCAAGCCCTGCTGTACAA

Phenotype

MIM: 173461

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PF4V1 PubMed Links

Gene Details

Gene

PF4V1

Gene Name

platelet factor 4 variant 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002620.3	326	Missense Mutation	ATG,TTG	M87L	NP_002611.1

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