Product Details

SNP ID: rs116730493
Assay Type: Functionally tested
NCBI dbSNP Submissions: 8
Location: Chr.1:211578122 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTCCCGGGGCGGGTGCTCTTAACG[A/C]GAGGCCCCTTGGGGAGGCCGTGGCC
Phenotype: MIM: 609521
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: SLC30A1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021194.2	636	Missense Mutation	CGC,CTC	R164L	NP_067017.2