Product Details

SNP ID
rs3750604
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.10:98415824 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
AGTTCGCTGTCTGTAATTCTCTGGT[A/G]TTTTAGTTTTGAAGGCCTGGCCAGT
Phenotype
MIM: 604982
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
HPS1 PubMed Links
Additional Information
For this assay, SNP(s) [rs3833718] 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
HPS1
Gene Name
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000195.4 Intron NP_000186.2
NM_001311345.1 Intron NP_001298274.1
NM_001322476.1 Intron NP_001309405.1
NM_001322477.1 Intron NP_001309406.1
NM_001322478.1 Intron NP_001309407.1
NM_001322479.1 Intron NP_001309408.1
NM_001322480.1 Intron NP_001309409.1
NM_001322481.1 Intron NP_001309410.1
NM_001322482.1 Intron NP_001309411.1
NM_001322483.1 Intron NP_001309412.1
NM_001322484.1 Intron NP_001309413.1
NM_001322485.1 Intron NP_001309414.1
NM_001322487.1 Intron NP_001309416.1
NM_001322489.1 Intron NP_001309418.1
NM_001322490.1 Intron NP_001309419.1
NM_001322491.1 Intron NP_001309420.1
NM_001322492.1 Intron NP_001309421.1
NM_182639.3 Intron NP_872577.1
XM_005269757.4 Intron XP_005269814.1
XM_017016170.1 Intron XP_016871659.1
XM_017016171.1 Intron XP_016871660.1
XM_017016172.1 Intron XP_016871661.1
XM_017016173.1 Intron XP_016871662.1
Gene
PYROXD2
Gene Name
pyridine nucleotide-disulphide oxidoreductase domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032709.2 Intron NP_116098.2
XM_011540293.2 Intron XP_011538595.1
XM_011540301.2 Intron XP_011538603.1
XM_017016835.1 Intron XP_016872324.1
XM_017016836.1 Intron XP_016872325.1
XM_017016837.1 Intron XP_016872326.1
XM_017016838.1 Intron XP_016872327.1
XM_017016839.1 Intron XP_016872328.1
XM_017016840.1 Intron XP_016872329.1
XM_017016841.1 Intron XP_016872330.1

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