Product Details

SNP ID
rs121909505
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232527436 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGACCCTCACTACCAATGTGTG[A/G]ATAGAGCACGTAAGAATGCCCCTCC
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_000751.2 262 Nonsense Mutation TGA,TGG *78W NP_000742.1
NM_001256657.1 262 Intron NP_001243586.1
NM_001311195.1 262 UTR 5 NP_001298124.1
NM_001311196.1 262 UTR 5 NP_001298125.1
XM_011510524.2 262 UTR 5 XP_011508826.1
Gene
PRSS56
Gene Name
protease, serine 56
There are no transcripts associated with this gene.

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