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SNP ID

rs193228973

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:147981613 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCGGGTCAGCAAACCCTTTGGG[A/G]TGCTCATGCTCTCCATTTGGATCCT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FMR1NB PubMed Links

Gene Details

Gene

FMR1NB

Gene Name

fragile X mental retardation 1 neighbor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152578.2	285	Missense Mutation	ATG,GTG	M71V	NP_689791.1

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