Product Details

SNP ID
rs143753711
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:69161796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAATACCCCAGGTTGCATCAACTC[C/G]TGACCAGAATCATTATCCCCCTCAC
Phenotype
MIM: 300420
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
PJA1 PubMed Links

Gene Details

Gene
PJA1
Gene Name
praja ring finger ubiquitin ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032396.2 1258 Silent Mutation CAC,CAG H426Q NP_001027568.1
NM_022368.4 1258 Silent Mutation CAC,CAG H293Q NP_071763.2
NM_145119.3 1258 Silent Mutation CAC,CAG H481Q NP_660095.1
XM_005262292.1 1258 Silent Mutation CAC,CAG H426Q XP_005262349.1
XM_011531011.2 1258 Silent Mutation CAC,CAG H481Q XP_011529313.1

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