Product Details

SNP ID

rs363847

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:48411104 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGTTCTTTCTTTTTATAAAGTGG[A/G]GTACTACTGATTTGTAATGAATAGG

Phenotype

MIM: 134797

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBN1 PubMed Links

Gene Details

Gene

FBN1

Gene Name

fibrillin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000138.4	8897	Silent Mutation	ACC,ACT	T2834T	NP_000129.3

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