Product Details

SNP ID

hCV27859174

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:174748234 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATGTGGTCCATCACCATTGCAA[A/C]GTACTTCCACTCTGCCGCCGCCTGG

Phenotype

MIM: 100690

Polymorphism

A/C, 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	1342	Missense Mutation	GTT,TTT	V422F	NP_000070.1
NM_001039523.2	1342	Missense Mutation	GTT,TTT	V447F	NP_001034612.1

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