Product Details

SNP ID
rs201342028
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88707210 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATACGAGCCGGAGATGCCTTCTGCA[C/G]GTGAGGCCTGGAGGTGGCTGAGACC
Phenotype
MIM: 611184
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CTU2 PubMed Links

Gene Details

Gene
CTU2
Gene Name
cytosolic thiouridylase subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012759.2 211 Missense Mutation ACG,AGG T48R NP_001012777.1
NM_001012762.2 211 Missense Mutation ACG,AGG T48R NP_001012780.1
NM_001318507.1 211 Missense Mutation ACG,AGG T48R NP_001305436.1
NM_001318513.1 211 UTR 5 NP_001305442.1
XM_017023210.1 211 Intron XP_016878699.1
Gene
MIR4722
Gene Name
microRNA 4722
There are no transcripts associated with this gene.

Gene
PIEZO1
Gene Name
piezo type mechanosensitive ion channel component 1
There are no transcripts associated with this gene.

Gene
RNF166
Gene Name
ring finger protein 166
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171815.1 211 Intron NP_001165286.1
NM_001171816.1 211 Intron NP_001165287.1
NM_178841.3 211 Intron NP_849163.1
XM_011522845.2 211 Intron XP_011521147.1
XM_011522846.1 211 Intron XP_011521148.1
XM_011522847.1 211 Intron XP_011521149.1
XM_017022910.1 211 Intron XP_016878399.1
XM_017022911.1 211 Intron XP_016878400.1
XM_017022912.1 211 Intron XP_016878401.1
XM_017022913.1 211 Intron XP_016878402.1

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