Product Details

SNP ID

rs150995142

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:46178080 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCACAGATGCGGATGGTGAGC[A/G]TGCCTGTGCTGCTCAGTGTGGGCGG

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	2383	Missense Mutation	ACG,ATG	T594M	NP_067071.1
XM_011528994.2	2383	Missense Mutation	ACG,ATG	T594M	XP_011527296.1
XM_011528995.1	2383	Missense Mutation	ACG,ATG	T473M	XP_011527297.1

View Full Product Details