Product Details

SNP ID
rs138610425
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89179500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCCGGGCGCCTGCCCTGAGCCGC[G/T]TGCGGAGGGCCTGGGTCATCCCCCC
Phenotype
MIM: 114019
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CDH15 PubMed Links

Gene Details

Gene
CDH15
Gene Name
cadherin 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004933.2 204 Missense Mutation GTG,TTG V43L NP_004924.1

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