Product Details

SNP ID
rs140414320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:49611386 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGGAGCGCAGTCGTGCACTGGGC[G/T]TGGCGCTGGCCTTCATTAGCTTCGG
Phenotype
MIM: 118490 MIM: 600336
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CHAT PubMed Links

Gene Details

Gene
CHAT
Gene Name
choline O-acetyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142929.1 1086 Intron NP_001136401.1
NM_001142933.1 1086 Intron NP_001136405.1
NM_001142934.1 1086 Intron NP_001136406.1
NM_020549.4 1086 Intron NP_065574.3
NM_020984.3 1086 Intron NP_066264.3
NM_020985.3 1086 Intron NP_066265.3
NM_020986.3 1086 Intron NP_066266.3
Gene
SLC18A3
Gene Name
solute carrier family 18 member A3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003055.2 1086 Missense Mutation GTG,TTG V216L NP_003046.2

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