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SNP ID

rs79968982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45181191 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGTGTCGTGGGATAGGTTTTGC[C/T]TTCTTTTACTGTCTCCATCCTACTT

Phenotype

MIM: 609762 MIM: 610396

Polymorphism

C/T, Transition 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	1991	UTR 3			NP_997715.1

Gene

TRAPPC6A

Gene Name

trafficking protein particle complex 6A

There are no transcripts associated with this gene.

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