Product Details

SNP ID
rs200743096
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232526654 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGACGTTGCCCTGGCCCTCACA[A/C]TCTCCAACCTCATCTCCCTGGTGAG
Phenotype
MIM: 100720 MIM: 613858
Polymorphism
A/C, Transversion 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_000751.2 206 Missense Mutation ATC,CTC I60L NP_000742.1
NM_001256657.1 206 Missense Mutation ATC,CTC I60L NP_001243586.1
NM_001311195.1 206 UTR 5 NP_001298124.1
NM_001311196.1 206 UTR 5 NP_001298125.1
XM_011510524.2 206 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_001195129.1 206 Intron NP_001182058.1

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