Product Details

SNP ID
rs200204287
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:45592194 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGACTTGACTATAGAAGACAAA[G/T]CAGTGGAGCAACTGGCAGAAGGATT
Phenotype
MIM: 604310
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
BLOC1S6 PubMed Links

Gene Details

Gene
BLOC1S6
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001311255.1 297 Missense Mutation GCA,TCA A53S NP_001298184.1
NM_001311256.1 297 Missense Mutation GCA,TCA A53S NP_001298185.1
NM_012388.3 297 Missense Mutation GCA,TCA A48S NP_036520.1

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