Product Details

SNP ID
rs200921489
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232526555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTGGGGGCTGAACGAGGAGGAG[C/T]GGCTGATCCGGCACCTGTTTCAAGA
Phenotype
MIM: 100720 MIM: 613858
Polymorphism
C/T, 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_000751.2 107 Missense Mutation CGG,TGG R27W NP_000742.1
NM_001256657.1 107 Missense Mutation CGG,TGG R27W NP_001243586.1
NM_001311195.1 107 UTR 5 NP_001298124.1
NM_001311196.1 107 UTR 5 NP_001298125.1
XM_011510524.2 107 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_001195129.1 107 Intron NP_001182058.1

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