Product Details

SNP ID
rs7002731
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:18056602 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAAGTTCTATTAGTACTTTTCATAA[A/G]CAGTTTGATTTCTGAAAAATACAGT
Phenotype
MIM: 613468
Polymorphism
A/G, Transition 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 2299 UTR 3 NP_001120977.1
NM_004315.5 2299 UTR 3 NP_004306.3
NM_177924.4 2299 UTR 3 NP_808592.2
XM_005273504.3 2299 UTR 3 XP_005273561.1

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