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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