Product Details

SNP ID
rs200854927
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100296489 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGCAATGGTGTAAGACACGGAAG[C/G]CTTGGTGGGCAGAGAGCTCTTGAGG
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 4767 Missense Mutation CCT,GCT P1032A NP_001098713.1
NM_001184880.1 4767 Missense Mutation CCT,GCT P1079A NP_001171809.1
NM_020766.2 4767 Missense Mutation CCT,GCT P1031A NP_065817.2
XM_011530997.2 4767 Missense Mutation CCT,GCT P1078A XP_011529299.1

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