Product Details

SNP ID

rs201129023

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55726767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGGGTAATTCTCCATCTGCTGC[C/T]GGAAGTTGTTATTAAACTCTGACAT

Phenotype

MIM: 601444 MIM: 155740 MIM: 601617

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

BLOC1S1 PubMed Links

Additional Information

For this assay, SNP(s) [rs13020] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

BLOC1S1

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 1

There are no transcripts associated with this gene.

Gene

BLOC1S1-RDH5

Gene Name

BLOC1S1-RDH5 readthrough

There are no transcripts associated with this gene.

Gene

CD63

Gene Name

CD63 molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257389.1	500	Missense Mutation	CAG,CGG	Q120R	NP_001244318.1
NM_001257390.1	500	Missense Mutation	CAG,CGG	Q120R	NP_001244319.1
NM_001257391.1	500	Missense Mutation	CAG,CGG	Q120R	NP_001244320.1
NM_001257392.1	500	Missense Mutation	CAG,CGG	Q97R	NP_001244321.1
NM_001257400.1	500	Missense Mutation	CAG,CGG	Q38R	NP_001244329.1
NM_001257401.1	500	Missense Mutation	CAG,CGG	Q38R	NP_001244330.1
NM_001267698.1	500	Missense Mutation	CAG,CGG	Q120R	NP_001254627.1
NM_001780.5	500	Missense Mutation	CAG,CGG	Q120R	NP_001771.1

Gene

RDH5

Gene Name

retinol dehydrogenase 5

There are no transcripts associated with this gene.

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