Product Details

SNP ID: rs146148316
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:70599561 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TATTCTAGATACGGCTTTGGAAAAT[C/G]ATTTAATTCTTTGTGGATGCACGGT
Phenotype: MIM: 601259
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: AMBN PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016519.5	310	Nonsense Mutation	TCA,TGA	S70*	NP_057603.1