Product Details

SNP ID

rs139786558

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:93898559 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAGCACACATGTTCTCAGAGCA[G/T]TCATCTATATCTGAGGTAAAAAAAA

Phenotype

MIM: 176880

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PROS1 PubMed Links

Gene Details

Gene

PROS1

Gene Name

protein S (alpha)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000313.3	1166	Missense Mutation	GAA,GAC	E246D	NP_000304.2
NM_001314077.1	1166	Missense Mutation	GAA,GAC	E278D	NP_001301006.1

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