Product Details

SNP ID

rs1049885

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:18056512 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAACTGTGATTATACAAAATGAAG[G/T]GGACAAACGGTCTTGCACAAATGAC

Phenotype

MIM: 613468

Polymorphism

G/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	2389	UTR 3			NP_001120977.1
NM_004315.5	2389	UTR 3			NP_004306.3
NM_177924.4	2389	UTR 3			NP_808592.2
XM_005273504.3	2389	UTR 3			XP_005273561.1

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