Product Details

SNP ID
rs142760278
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:50245277 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGCTCGTCCAACACCAATATGG[A/T]AGCCACTGAAGTTCTGAAATAGAGG
Phenotype
MIM: 611202
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
ASAH2 PubMed Links

Gene Details

Gene
ASAH2
Gene Name
N-acylsphingosine amidohydrolase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143974.1 305 Missense Mutation TAC,TTC Y102F NP_001137446.1
NM_019893.2 305 Missense Mutation TAC,TTC Y102F NP_063946.2
XM_011539970.2 305 Missense Mutation TAC,TTC Y102F XP_011538272.1
XM_011539971.2 305 Missense Mutation TAC,TTC Y102F XP_011538273.1
XM_011539972.2 305 Missense Mutation TAC,TTC Y102F XP_011538274.1
XM_011539973.2 305 Missense Mutation TAC,TTC Y102F XP_011538275.1
XM_017016435.1 305 Missense Mutation TAC,TTC Y102F XP_016871924.1
XM_017016436.1 305 Intron XP_016871925.1

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