Product Details

SNP ID: rs281865109
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.10:102066289 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCAGGGAGCCACTGGCTGTACACA[T/C]CTGGGCCCCAACTCCCCAGGGCCTG
Phenotype: MIM: 607522
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: HPS6 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024747.5	923	Missense Mutation	ACC,ATC	T272I	NP_079023.2