Product Details

SNP ID

rs137914321

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:128259599 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTGATTTCCAGTGTGTATGTGCC[A/G]GGCATGAGCTTCTTCTTGGCCGTGT

Phenotype

MIM: 612570

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBN2 PubMed Links

Gene Details

Gene

FBN2

Gene Name

fibrillin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001999.3	9197	Silent Mutation	CCC,CCT	P2865P	NP_001990.2
XM_017009228.1	9197	Silent Mutation	CCC,CCT	P2814P	XP_016864717.1

View Full Product Details