Product Details

SNP ID
rs143002322
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232526556 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGGGGGCTGAACGAGGAGGAGC[A/G]GCTGATCCGGCACCTGTTTCAAGAG
Phenotype
MIM: 100720 MIM: 613858
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHRND PubMed Links

Gene Details

Gene
CHRND
Gene Name
cholinergic receptor nicotinic delta subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000751.2 108 Missense Mutation CAG,CGG Q27R NP_000742.1
NM_001256657.1 108 Missense Mutation CAG,CGG Q27R NP_001243586.1
NM_001311195.1 108 UTR 5 NP_001298124.1
NM_001311196.1 108 UTR 5 NP_001298125.1
XM_011510524.2 108 UTR 5 XP_011508826.1
Gene
PRSS56
Gene Name
protease, serine 56
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195129.1 108 Intron NP_001182058.1

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