Product Details

SNP ID: rs139517839
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.10:102066513 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGTGGGCAGCTGCTGGAGAGGAAG[A/G]TCCTAAGTACAGACAGGGTACATCT
Phenotype: MIM: 607522
Polymorphism: A/G, 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	1147	Missense Mutation	ATC,GTC	I347V	NP_079023.2