Product Details

SNP ID
rs994265417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88715947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCACTCACCCGTAGCCAGCCAG[G/A]AAGCCGAGGCTCGGTGGGCTGACCT
Phenotype
MIM: 611184
Polymorphism
G/A, Transition 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 7558 Intron NP_001012777.1
NM_001012762.2 7558 Intron NP_001012780.1
NM_001318507.1 7558 Intron NP_001305436.1
NM_001318513.1 7558 Intron NP_001305442.1
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142864.3 7558 Silent Mutation TTC,TTT F2434F NP_001136336.2
Gene
RNF166
Gene Name
ring finger protein 166
There are no transcripts associated with this gene.

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