Product Details

SNP ID
rs200223952
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:154569498 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGATACAGAGGAGCGGCTGGTGG[G/A]GCATCTCCTGGATCCTTCCCGCTAC
Phenotype
MIM: 118507
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
CHRNB2 PubMed Links

Gene Details

Gene
CHRNB2
Gene Name
cholinergic receptor nicotinic beta 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000748.2 347 Missense Mutation GAG,GGG E34G NP_000739.1
XM_017000180.1 347 UTR 5 XP_016855669.1

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