Product Details

SNP ID
rs191333060
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100296405 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGGGGCTCAGCTTCAGAGGGAC[C/G]AGTAGGGCCATTGTTGACATTGTTG
Phenotype
MIM: 300460
Polymorphism
C/G, 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 4851 Missense Mutation CGT,GGT R1060G NP_001098713.1
NM_001184880.1 4851 Missense Mutation CGT,GGT R1107G NP_001171809.1
NM_020766.2 4851 Missense Mutation CGT,GGT R1059G NP_065817.2
XM_011530997.2 4851 Missense Mutation CGT,GGT R1106G XP_011529299.1

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