Product Details

SNP ID
rs142721168
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:21751763 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAGTGACTTTATCAGGGTTATAAC[A/T]CTCTTCTTCGCCAAACATGTCTGCC
Phenotype
MIM: 600562
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CDH12 PubMed Links

Gene Details

Gene
CDH12
Gene Name
cadherin 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317227.1 3073 Missense Mutation AGT,TGT S787C NP_001304156.1
NM_001317228.1 3073 Missense Mutation AGT,TGT S747C NP_001304157.1
NM_004061.4 3073 Missense Mutation AGT,TGT S787C NP_004052.2
XM_011513927.2 3073 Missense Mutation AGT,TGT S787C XP_011512229.1
XM_017008920.1 3073 Missense Mutation AGT,TGT S787C XP_016864409.1
XM_017008921.1 3073 Missense Mutation AGT,TGT S787C XP_016864410.1

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