Product Details

SNP ID

rs1042078

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.15:48410676 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GTCCATCAATTGAAAGCACATTCCC[A/G]TACGTTTGCTGGAAGGATGGCATGT

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	9325	UTR 3			NP_000129.3

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