Product Details

SNP ID
rs200470408
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:61411268 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAAATATTAGAAATATCCATTGGC[A/T]TTCTCTCTCGCATATGCAAGTCAAT
Phenotype
MIM: 614449
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PCDH20 PubMed Links

Gene Details

Gene
PCDH20
Gene Name
protocadherin 20
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022843.3 4631 Missense Mutation AAG,ATG K944M NP_073754.2
XM_017020708.1 4631 Missense Mutation AAG,ATG K944M XP_016876197.1

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