Product Details

SNP ID

rs150258538

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:128259560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTTTCTTAAGCTCCTTCTTCTT[G/T]TAGAGAGGGATGCTAGTGATTTCCA

Phenotype

MIM: 612570

Polymorphism

G/T, 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	9236	Nonsense Mutation	TAA,TAC	*2878Y	NP_001990.2
XM_017009228.1	9236	Nonsense Mutation	TAA,TAC	*2827Y	XP_016864717.1

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