Product Details

SNP ID
rs143031746
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52845470 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATCCTTTTTCAGAGCGTCCCCGC[A/T]GATGTCGGAATCGCTGTCGTTGAAA
Phenotype
MIM: 603580
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
PCDH8 PubMed Links

Gene Details

Gene
PCDH8
Gene Name
protocadherin 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002590.3 2998 Missense Mutation AGC,TGC S932C NP_002581.2
NM_032949.2 2998 Missense Mutation AGC,TGC S835C NP_116567.1

View Full Product Details