Product Details

SNP ID: rs6032259
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45512691 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GAATTTCTCACATTTTTCTTTCCTC[A/G]AAAAGTTGTTGCTGTTGCCTCCGCA
Phenotype: MIM: 613941
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: SPINT3 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006652.1	246	Missense Mutation	TCG,TTG	S77L	NP_006643.1