Product Details

SNP ID: rs199518594
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:129321865 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCTCACCTGTCGGGGGAGGTGGGC[A/G]AGGAAGCCTGCAGCTCCTGGAACCC
Phenotype
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: C9orf106 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012715.3	105	Missense Mutation	AAG,GAG	K18E	NP_001012733.2