Product Details

SNP ID
rs147221131
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:235664574 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCCCTGCAGTGGACATGTCCAA[C/T]GAGATCCCCGTTCACCGTCCAGAGT
Phenotype
MIM: 606897
Polymorphism
C/T, 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 11705 Missense Mutation ATT,GTT I3696V NP_000072.2
NM_001301365.1 11705 Missense Mutation ATT,GTT I3696V NP_001288294.1
XM_011544031.1 11705 Missense Mutation ATT,GTT I3750V XP_011542333.1
XM_011544032.1 11705 Missense Mutation ATT,GTT I3750V XP_011542334.1
XM_011544033.2 11705 Missense Mutation ATT,GTT I3750V XP_011542335.1
XM_011544034.1 11705 Missense Mutation ATT,GTT I3704V XP_011542336.1
XM_011544035.2 11705 Intron XP_011542337.1
XM_011544036.2 11705 Missense Mutation ATT,GTT I2971V XP_011542338.1
XM_011544037.2 11705 Intron XP_011542339.1
XM_011544039.2 11705 Intron XP_011542341.1
XM_011544040.2 11705 Intron XP_011542342.1
XM_017000150.1 11705 Missense Mutation ATT,GTT I3673V XP_016855639.1
XM_017000151.1 11705 Intron XP_016855640.1

View Full Product Details