Product Details

SNP ID
rs149605903
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:45592155 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGGTTTAAGTGACACTTCTCCA[A/G]ATGAAGGGTTAATAGAGGACTTGAC
Phenotype
MIM: 604310
Polymorphism
A/G, Transition 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_001311255.1 258 Missense Mutation AAT,GAT N40D NP_001298184.1
NM_001311256.1 258 Missense Mutation AAT,GAT N40D NP_001298185.1
NM_012388.3 258 Missense Mutation AAT,GAT N35D NP_036520.1

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