Product Details

SNP ID
rs4565199
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:150357658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGAGCGAAAGAGGAGCCGGAAGTG[G/T]GGCGCGCGAGGTCTAAGGGCGCGAG
Phenotype
MIM: 606847
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
TCOF1 PubMed Links

Gene Details

Gene
TCOF1
Gene Name
treacle ribosome biogenesis factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000356.3 20 UTR 5 NP_000347.2
NM_001008657.2 20 UTR 5 NP_001008657.1
NM_001135243.1 20 UTR 5 NP_001128715.1
NM_001135244.1 20 UTR 5 NP_001128716.1
NM_001135245.1 20 UTR 5 NP_001128717.1
NM_001195141.1 20 UTR 5 NP_001182070.1
XM_005268502.3 20 Intron XP_005268559.1
XM_005268503.3 20 Intron XP_005268560.1
XM_005268504.3 20 Intron XP_005268561.1
XM_005268505.3 20 Intron XP_005268562.1
XM_005268506.3 20 Intron XP_005268563.1
XM_005268507.3 20 Intron XP_005268564.1
XM_005268508.3 20 Intron XP_005268565.1
XM_005268509.3 20 Intron XP_005268566.1
XM_011537678.2 20 Intron XP_011535980.1
XM_017009792.1 20 Intron XP_016865281.1
XM_017009793.1 20 Intron XP_016865282.1
XM_017009794.1 20 Intron XP_016865283.1
XM_017009795.1 20 Intron XP_016865284.1

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