Product Details

SNP ID
rs148818309
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:57632592 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTTCTTCTATGGGCCCCTGCC[C/G]TCACTCTCAAGAACCTCAACTACTC
Phenotype
MIM: 611760
Polymorphism
C/G, Transversion 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 2489 Missense Mutation CTC,GTC L16V NP_001035519.1
XM_005266357.2 2489 Missense Mutation CTC,GTC L16V XP_005266414.1
XM_005266358.2 2489 Missense Mutation CTC,GTC L16V XP_005266415.1
XM_017020547.1 2489 Missense Mutation CTC,GTC L16V XP_016876036.1

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