Product Details

SNP ID
rs1270094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:147919818 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTGTCTCAGCTTCCATAGTTTT[C/T]CTTAAGAGCAGCTAATTAATGCTTC
Phenotype
MIM: 309550 MIM: 300805
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FMR1 PubMed Links

Gene Details

Gene
FMR1
Gene Name
fragile X mental retardation 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185075.1 Intron NP_001172004.1
NM_001185076.1 Intron NP_001172005.1
NM_001185081.1 Intron NP_001172010.1
NM_001185082.1 Intron NP_001172011.1
NM_002024.5 Intron NP_002015.1
Gene
FMR1-AS1
Gene Name
FMR1 antisense RNA 1
There are no transcripts associated with this gene.

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