Product Details

SNP ID

rs2069936

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:127418460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGGCTGTCATGGCGGCAGGAC[A/G]GCGAACTTGCAGTATCTCCACGACC

Phenotype

MIM: 612283

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MIR4783 PubMed Links

Gene Details

Gene

MIR4783

Gene Name

microRNA 4783

There are no transcripts associated with this gene.

Gene

PROC

Gene Name

protein C, inactivator of coagulation factors Va and VIIIa

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000312.3	240	UTR 5			NP_000303.1
XM_005263717.4	240	Missense Mutation	CAG,CGG	Q5R	XP_005263774.1
XM_017004505.1	240	Silent Mutation	ACA,ACG	T75T	XP_016859994.1
XM_017004506.1	240	Intron			XP_016859995.1

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