Product Details

SNP ID
rs34757609
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149129859 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCTGCAAGGTGGAGGCGTTCGCG[A/G]TGGCCGGCCAGGAGCTGTGCCAGCC
Phenotype
MIM: 606118
Polymorphism
A/G, Transition 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_001308258.1 251 Missense Mutation ATG,GTG M46V NP_001295187.1
NM_032383.4 251 Missense Mutation ATG,GTG M46V NP_115759.2
XM_005247834.3 251 Missense Mutation ATG,GTG M46V XP_005247891.1
XM_017007323.1 251 Missense Mutation ATG,GTG M46V XP_016862812.1

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