Product Details

SNP ID
rs121909509
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232527438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGACCCTCACTACCAATGTGTGGA[A/T]AGAGCACGTAAGAATGCCCCTCCCA
Phenotype
MIM: 100720 MIM: 613858
Polymorphism
A/T, 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_000751.2 264 Missense Mutation AAA,ATA K79I NP_000742.1
NM_001256657.1 264 Intron NP_001243586.1
NM_001311195.1 264 UTR 5 NP_001298124.1
NM_001311196.1 264 UTR 5 NP_001298125.1
XM_011510524.2 264 UTR 5 XP_011508826.1
Gene
PRSS56
Gene Name
protease, serine 56
There are no transcripts associated with this gene.

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