Product Details

SNP ID

rs201628418

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:102066369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTATTGCAGTCCCACGGTGGTACG[C/T]GGGCTGTGGGCACCCTGCAGGAGGC

Phenotype

MIM: 607522

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPS6 PubMed Links

Gene Details

Gene

HPS6

Gene Name

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024747.5	1003	Missense Mutation	CGG,TGG	R299W	NP_079023.2

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