Product Details

SNP ID
rs149708798
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26433636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCATGGTGTGGGCGCCCTTGGG[A/C]CCCCCGAGGACTGATTGTCTGACCT
Phenotype
MIM: 606682
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
ASPHD2 PubMed Links

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_020437.4 418 Silent Mutation GGA,GGG G7G NP_065170.2
Gene
HPS4
Gene Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
There are no transcripts associated with this gene.

View Full Product Details