Product Details

SNP ID

rs719018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45592328 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACTCATTTCCTCTGTGGCATAGTCA[C/T]AATTTGTATAATTGTATACTGTGTT

Phenotype

MIM: 604310

Polymorphism

C/T, 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		Intron			NP_001298184.1
NM_001311256.1		Intron			NP_001298185.1
NM_012388.3		Intron			NP_036520.1

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