Product Details

SNP ID
rs200294685
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149129826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCGGGGGGCGTGACGCGCTTTTC[G/T]TGGCGGCGGGCTGCAAGGTGGAGGC
Phenotype
MIM: 606118
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HPS3 PubMed Links

Gene Details

Gene
HPS3
Gene Name
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308258.1 218 Missense Mutation GTG,TTG V35L NP_001295187.1
NM_032383.4 218 Missense Mutation GTG,TTG V35L NP_115759.2
XM_005247834.3 218 Missense Mutation GTG,TTG V35L XP_005247891.1
XM_017007323.1 218 Missense Mutation GTG,TTG V35L XP_016862812.1

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