Product Details

SNP ID
rs200054096
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:18057598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTCGAATTGACCTTTGGTAACA[A/T]CTATCAAGGTTGTGTATACGGTCAG
Phenotype
MIM: 613468
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
ASAH1 PubMed Links

Gene Details

Gene
ASAH1
Gene Name
N-acylsphingosine amidohydrolase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127505.2 1303 Missense Mutation GAT,GTT D369V NP_001120977.1
NM_004315.5 1303 Missense Mutation GAT,GTT D391V NP_004306.3
NM_177924.4 1303 Missense Mutation GAT,GTT D375V NP_808592.2
XM_005273504.3 1303 Missense Mutation GAT,GTT D353V XP_005273561.1

View Full Product Details