Product Details

SNP ID: rs5355
Assay Type: Functionally tested
NCBI dbSNP Submissions: 62
Location: Chr.1:169726729 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CGTAAGCATTTCCGAAGCCAGAGGA[A/G]AAATGGTGCTAATGTCAGGAGGGAG
Phenotype: MIM: 131210
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: SELE PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000450.2	1880	Missense Mutation	CTC,TTC	L575F	NP_000441.2