Product Details

SNP ID

rs200834291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7593179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCTGTAGACACATCTGAGCTGG[G/T]GCCTGAAGAACACAATGGGATTTAT

Phenotype

MIM: 605339 MIM: 604041 MIM: 601297

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FXR2 PubMed Links

Gene Details

Gene

FXR2

Gene Name

FMR1 autosomal homolog 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004860.3	1698	Missense Mutation	ACC,CCC	T445P	NP_004851.2

Gene

LOC100996842

Gene Name

uncharacterized LOC100996842

There are no transcripts associated with this gene.

Gene

MPDU1

Gene Name

mannose-P-dolichol utilization defect 1

There are no transcripts associated with this gene.

Gene

SOX15

Gene Name

SRY-box 15

There are no transcripts associated with this gene.

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