Product Details

SNP ID
rs201247137
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:180912721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACGGTGGAGGTTCGCGGCTCTAA[C/T]GGGGCTTTCTACAAGGTACTGACCG
Phenotype
MIM: 600819
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FXR1 PubMed Links

Gene Details

Gene
FXR1
Gene Name
FMR1 autosomal homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013438.2 50 Silent Mutation AAC,AAT N12N NP_001013456.1
NM_001013439.2 50 UTR 5 NP_001013457.1
NM_005087.3 50 Silent Mutation AAC,AAT N12N NP_005078.2
XM_005247813.3 50 Silent Mutation AAC,AAT N12N XP_005247870.2
XM_005247814.3 50 Intron XP_005247871.2
XM_005247815.3 50 Intron XP_005247872.2
XM_005247816.3 50 Intron XP_005247873.2
XM_006713775.3 50 UTR 5 XP_006713838.1
XM_017007298.1 50 UTR 5 XP_016862787.1
XM_017007299.1 50 UTR 5 XP_016862788.1
XM_017007300.1 50 UTR 5 XP_016862789.1
XM_017007301.1 50 UTR 5 XP_016862790.1

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