Product Details

SNP ID
rs146049376
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:57633238 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTTCCGCCACCGTACAGATCAACG[C/T]GAAGGTGATTGACTCCAACGACAAC
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 3135 Missense Mutation GCG,GTG A231V NP_001035519.1
XM_005266357.2 3135 Missense Mutation GCG,GTG A231V XP_005266414.1
XM_005266358.2 3135 Missense Mutation GCG,GTG A231V XP_005266415.1
XM_017020547.1 3135 Missense Mutation GCG,GTG A231V XP_016876036.1

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