Product Details

SNP ID

rs145762743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45587477 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGGGCCGTCGTCTCCGGACGGG[A/G]CCCTGACACGGCCACCCTACTGCCT

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	355	Intron			NP_001298184.1
NM_001311256.1	355	Intron			NP_001298185.1
NM_012388.3	355	Missense Mutation	ACC,GCC	T12A	NP_036520.1

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