Product Details
- SNP ID
-
rs8137053
- Assay Type
- Validated
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:26448692 on Build GRCh38
- Set Membership
-
HapMap
Validated
- Context Sequence [VIC/FAM]
- GATTCCAAAGCACTCTCTGGGTTTT[A/T]TTCTCAGGGGAAGTACAGCTAATTT
- Phenotype
-
MIM: 606682
- Polymorphism
- A/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
ASPHD2
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs139294491] 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
- ASPHD2
- Gene Name
- aspartate beta-hydroxylase domain containing 2
There are no transcripts associated with this gene.
- Gene
- HPS4
- Gene Name
- HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
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