Product Details

SNP ID
rs138771033
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100296285 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCCTGGAGACTGGTTTAGAGAA[C/T]GATATCCTTCAGACGCTTCACACCA
Phenotype
MIM: 300460
Polymorphism
C/T, Transition 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 4971 Missense Mutation ATT,GTT I1100V NP_001098713.1
NM_001184880.1 4971 Missense Mutation ATT,GTT I1147V NP_001171809.1
NM_020766.2 4971 Missense Mutation ATT,GTT I1099V NP_065817.2
XM_011530997.2 4971 Missense Mutation ATT,GTT I1146V XP_011529299.1

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