Product Details

SNP ID
rs141816797
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100296324 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTTCACACCAGGGGACTCTTTGT[G/T]GCGACCTTCCTTCAGAATGGGGCTG
Phenotype
MIM: 300460
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PCDH19 PubMed Links

Gene Details

Gene
PCDH19
Gene Name
protocadherin 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105243.1 4932 Missense Mutation AAC,CAC N1087H NP_001098713.1
NM_001184880.1 4932 Missense Mutation AAC,CAC N1134H NP_001171809.1
NM_020766.2 4932 Missense Mutation AAC,CAC N1086H NP_065817.2
XM_011530997.2 4932 Missense Mutation AAC,CAC N1133H XP_011529299.1

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