Product Details

SNP ID: rs147266787
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:141319543 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTTCAGCATCTGTACTCAGCAATC[A/G]TTTCACTTCTTTTTCAACATCTGGA
Phenotype: MIM: 600573
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: TAF7 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005642.2	1242	Nonsense Mutation	CGA,TGA	R168*	NP_005633.2