Product Details

SNP ID

rs148715290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:102066169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAAAGTGATGGTGGCTGCCCCAC[A/G]GCTTGGTCTCTCCTACAGTAAGAGT

Phenotype

MIM: 607522

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C10orf76 PubMed Links

Gene Details

Gene

C10orf76

Gene Name

chromosome 10 open reading frame 76

There are no transcripts associated with this gene.

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	803	Missense Mutation	CAG,CGG	Q232R	NP_079023.2

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