Product Details

SNP ID: rs139804679
Assay Type: Functionally tested
NCBI dbSNP Submissions: 8
Location: Chr.1:177932503 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGGCCGCTTACCTCTGGTCCAGAC[A/G]AGCCTCCAACCCCAGCGCCCGCAGC
Phenotype: MIM: 612855
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: SEC16B PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033127.2	3089	Missense Mutation	TCG,TTG	S1000L	NP_149118.2