Product Details

SNP ID
rs121908923
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15453838 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAGTCATCCCTACCCAGGGAGA[G/T]AGGTCTCGCATGTCAGGTAGCCAAA
Phenotype
MIM: 603033
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
COLQ PubMed Links

Gene Details

Gene
COLQ
Gene Name
collagen like tail subunit of asymmetric acetylcholinesterase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005677.3 1544 Missense Mutation TAT,TCT Y430S NP_005668.2
NM_080538.2 1544 Missense Mutation TAT,TCT Y420S NP_536799.1
NM_080539.3 1544 Missense Mutation TAT,TCT Y396S NP_536800.2

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