Product Details

SNP ID: rs138867475
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:96524384 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAATGAATGTCTTTTCTTCAAAGGT[C/T]GAGTAAACATTGTTGATCTACAACA
Phenotype: MIM: 613372
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: UFL1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015323.4	274	Nonsense Mutation	CGA,TGA	R76*	NP_056138.1