Product Details

SNP ID
rs190113249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:1403381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGCACTGATACTCGCCCAGGCTC[C/T]GCTCCTTGCCTTCAGTCTGCACCAG
Phenotype
MIM: 300162 MIM: 400011
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASMTL PubMed Links

Gene Details

Gene
ASMTL
Gene Name
acetylserotonin O-methyltransferase-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173473.1 1806 Missense Mutation CAG,CGG Q527R NP_001166944.1
NM_001173474.1 1806 Missense Mutation CAG,CGG Q569R NP_001166945.1
NM_004192.3 1806 Missense Mutation CAG,CGG Q585R NP_004183.2
XM_005274434.3 1806 Missense Mutation CAG,CGG Q585R XP_005274491.1
XM_011546185.2 1806 Missense Mutation CAG,CGG Q502R XP_011544487.1
XM_017029919.1 1806 Missense Mutation CAG,CGG Q476R XP_016885408.1

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