Product Details

SNP ID

rs142747169

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:128259818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCATGTCGACACTCTCTAGGCT[C/G]ATCTGTTCAACCTGGAGGAAGAACA

Phenotype

MIM: 612570

Polymorphism

C/G, Transversion 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	8978	Silent Mutation	ATC,ATG	I2792M	NP_001990.2
XM_017009228.1	8978	Missense Mutation	ATC,ATG	I2741M	XP_016864717.1

View Full Product Details