Product Details

SNP ID: rs145477483
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.10:102066557 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACATCTGCTAGAACCGCCAGCCCC[C/T]GGCATGGAGGATGAGGAAGAGCTGG
Phenotype: MIM: 607522
Polymorphism: C/T, 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	1191	Silent Mutation	CCC,CCT	P361P	NP_079023.2