Product Details

SNP ID

rs142616480

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:46178069 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGAGCTGTCGCAGCCACAGATGC[A/G]GATGGTGAGCGTGCCTGTGCTGCTC

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	2394	Missense Mutation	CGC,TGC	R598C	NP_067071.1
XM_011528994.2	2394	Missense Mutation	CGC,TGC	R598C	XP_011527296.1
XM_011528995.1	2394	Missense Mutation	CGC,TGC	R477C	XP_011527297.1

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