Product Details

SNP ID
rs202090282
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:174748660 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGCACTTTTCACCTCGGGGTGTT[G/T]GATCAGGGGAGAGTGGAAGCCCATG
Phenotype
MIM: 100690
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CHRNA1 PubMed Links

Gene Details

Gene
CHRNA1
Gene Name
cholinergic receptor nicotinic alpha 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000079.3 1240 Missense Mutation AAA,CAA K388Q NP_000070.1
NM_001039523.2 1240 Missense Mutation AAA,CAA K413Q NP_001034612.1
XM_017003256.1 1240 Missense Mutation AAA,CAA K420Q XP_016858745.1
XM_017003257.1 1240 Missense Mutation AAA,CAA K395Q XP_016858746.1

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