Product Details

SNP ID
rs181719144
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100296712 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTGGTGGGGCCGCAGTCGTCATA[A/G]GCCTCGACATCAGCAGCAGTAGCTT
Phenotype
MIM: 300460
Polymorphism
A/G, 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 4544 Silent Mutation GCC,GCT A957A NP_001098713.1
NM_001184880.1 4544 Silent Mutation GCC,GCT A1004A NP_001171809.1
NM_020766.2 4544 Silent Mutation GCC,GCT A956A NP_065817.2
XM_011530997.2 4544 Silent Mutation GCC,GCT A1003A XP_011529299.1

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