Product Details

SNP ID
rs199892587
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:21752053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAGAGTCTGGTTTTATATCCCTG[C/T]GAATTTTGTTCTCCTCAATCACTTT
Phenotype
MIM: 600562
Polymorphism
C/T, Transition 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 2783 Missense Mutation CAC,CGC H690R NP_001304156.1
NM_001317228.1 2783 Missense Mutation CAC,CGC H650R NP_001304157.1
NM_004061.4 2783 Missense Mutation CAC,CGC H690R NP_004052.2
XM_011513927.2 2783 Missense Mutation CAC,CGC H690R XP_011512229.1
XM_017008920.1 2783 Missense Mutation CAC,CGC H690R XP_016864409.1
XM_017008921.1 2783 Missense Mutation CAC,CGC H690R XP_016864410.1

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