Product Details

SNP ID
rs141660791
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:69161790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCATGAATACCCCAGGTTGCAT[A/C]AACTCGTGACCAGAATCATTATCCC
Phenotype
MIM: 300420
Polymorphism
A/C, 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 1264 Missense Mutation TTG,TTT L428F NP_001027568.1
NM_022368.4 1264 Missense Mutation TTG,TTT L295F NP_071763.2
NM_145119.3 1264 Missense Mutation TTG,TTT L483F NP_660095.1
XM_005262292.1 1264 Missense Mutation TTG,TTT L428F XP_005262349.1
XM_011531011.2 1264 Missense Mutation TTG,TTT L483F XP_011529313.1

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