Product Details

SNP ID

rs142001812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:46719813 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAGCGAGAGTGCGTGGAGGAGA[C/T]GTGCAGCTACGAGGAGGCCTTCGAG

Phenotype

MIM: 176930

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

F2 PubMed Links

Gene Details

Gene

F2

Gene Name

coagulation factor II, thrombin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000506.4	213	Missense Mutation	ACG,ATG	T64M	NP_000497.1
NM_001311257.1	213	Missense Mutation	ACG,ATG	T48M	NP_001298186.1

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