Product Details

SNP ID
rs199628316
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26433950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTACGTGTACTGCCAGTCCCCTG[A/C]GTGCGTGCGCTGCACCCACAACGAG
Phenotype
MIM: 606682
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
ASPHD2 PubMed Links
Additional Information
For this assay, SNP(s) [rs3747128] are located under a probe 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
ASPHD2
Gene Name
aspartate beta-hydroxylase domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020437.4 732 Missense Mutation GAG,GCG E112A NP_065170.2
Gene
HPS4
Gene Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
There are no transcripts associated with this gene.

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