Product Details

SNP ID
rs144264730
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:66909357 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCCCACCTTGCGCATGCACTGCC[C/T]CTCCACGTTGCAGCGACACACGATC
Phenotype
MIM: 603118
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CDH16 PubMed Links

Gene Details

Gene
CDH16
Gene Name
cadherin 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204744.1 2387 Missense Mutation AGG,GGG R746G NP_001191673.1
NM_001204745.1 2387 Missense Mutation AGG,GGG R729G NP_001191674.1
NM_001204746.1 2387 Missense Mutation AGG,GGG R671G NP_001191675.1
NM_004062.3 2387 Missense Mutation AGG,GGG R768G NP_004053.1
XM_005255770.2 2387 Missense Mutation AGG,GGG R590G XP_005255827.1
XM_011522807.1 2387 Missense Mutation AGG,GGG R705G XP_011521109.1

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