Product Details

SNP ID
rs200799185
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45179801 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCCTGGCGCGCGGGGACCTTTGT[G/T]CGCTGGCCGAGCGTCTGGACATCGT
Phenotype
MIM: 609762 MIM: 610396
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
BLOC1S3 PubMed Links

Gene Details

Gene
BLOC1S3
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_212550.4 601 Missense Mutation GCG,TCG A169S NP_997715.1
Gene
TRAPPC6A
Gene Name
trafficking protein particle complex 6A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270891.1 601 Intron NP_001257820.1
NM_001270892.1 601 Intron NP_001257821.1
NM_001270893.1 601 Intron NP_001257822.1
NM_024108.2 601 Intron NP_077013.1

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