Product Details

SNP ID
rs145483531
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:46175060 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTGTGGTGGCGCCTGAGGGTGA[A/G]GATCAGCAGCACCAGCACTGCGAGG
Phenotype
MIM: 609920
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CDH22 PubMed Links

Gene Details

Gene
CDH22
Gene Name
cadherin 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021248.2 2535 Missense Mutation CTC,TTC L645F NP_067071.1
XM_011528994.2 2535 Missense Mutation CTC,TTC L645F XP_011527296.1
XM_011528995.1 2535 Missense Mutation CTC,TTC L524F XP_011527297.1

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