Product Details

SNP ID
rs139199962
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:235662946 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTGAAGTTCATTCGCATTCACCC[A/G]GCTGCATAGCTGCTAAGGAAGGAAT
Phenotype
MIM: 606897
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LYST PubMed Links

Gene Details

Gene
LYST
Gene Name
lysosomal trafficking regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000081.3 12019 Silent Mutation GCC,GCT A3800A NP_000072.2
NM_001301365.1 12019 Silent Mutation GCC,GCT A3800A NP_001288294.1
XM_011544031.1 12019 Silent Mutation GCC,GCT A3854A XP_011542333.1
XM_011544032.1 12019 Silent Mutation GCC,GCT A3854A XP_011542334.1
XM_011544033.2 12019 Silent Mutation GCC,GCT A3854A XP_011542335.1
XM_011544034.1 12019 Silent Mutation GCC,GCT A3808A XP_011542336.1
XM_011544035.2 12019 Intron XP_011542337.1
XM_011544036.2 12019 Silent Mutation GCC,GCT A3075A XP_011542338.1
XM_011544037.2 12019 Intron XP_011542339.1
XM_011544039.2 12019 Intron XP_011542341.1
XM_011544040.2 12019 Intron XP_011542342.1
XM_017000150.1 12019 Silent Mutation GCC,GCT A3777A XP_016855639.1
XM_017000151.1 12019 Intron XP_016855640.1

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