Product Details

SNP ID
rs143837187
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:96521874 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGTCTACTGCGAGTCAGGCCGTG[A/C]TGGCGGACGCCTGGGAAGAGATTAG
Phenotype
MIM: 613372
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
UFL1 PubMed Links

Gene Details

Gene
UFL1
Gene Name
UFM1 specific ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015323.4 49 Missense Mutation ATG,CTG M1L NP_056138.1

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