Product Details
- SNP ID
-
rs28941769
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:150361196 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGCCCGTAACCCTTCTGGACATCT[A/G]TACACACTGGCAACAGTAAGTGGTG
- Phenotype
-
MIM: 606847
- Polymorphism
- A/G, Transition 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 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
NP_000347.2 |
NM_001008657.2 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
NP_001008657.1 |
NM_001135243.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
NP_001128715.1 |
NM_001135244.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
NP_001128716.1 |
NM_001135245.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
NP_001128717.1 |
NM_001195141.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
NP_001182070.1 |
XM_005268502.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268559.1 |
XM_005268503.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268560.1 |
XM_005268504.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268561.1 |
XM_005268505.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268562.1 |
XM_005268506.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268563.1 |
XM_005268507.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268564.1 |
XM_005268508.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268565.1 |
XM_005268509.3 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_005268566.1 |
XM_011537678.2 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_011535980.1 |
XM_017009792.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_016865281.1 |
XM_017009793.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_016865282.1 |
XM_017009794.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_016865283.1 |
XM_017009795.1 |
194 |
Missense Mutation |
TAT,TGT |
Y50C |
XP_016865284.1 |
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