Product Details

SNP ID
rs202073176
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:57632986 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGACATCTCGGAGAACGCTGCTC[C/T]GGGCACCCGCTTCCCCCTCACCAGC
Phenotype
MIM: 611760
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PCDH17 PubMed Links

Gene Details

Gene
PCDH17
Gene Name
protocadherin 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040429.2 2883 Missense Mutation CCG,CTG P147L NP_001035519.1
XM_005266357.2 2883 Missense Mutation CCG,CTG P147L XP_005266414.1
XM_005266358.2 2883 Missense Mutation CCG,CTG P147L XP_005266415.1
XM_017020547.1 2883 Missense Mutation CCG,CTG P147L XP_016876036.1

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