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SNP ID

rs142588366

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6717025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATATTCATGATTCAGTGTAGAA[G/T]GTATAGACTTTATGTCTTCCAAGTT

Phenotype

MIM: 605695

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S4 PubMed Links

Gene Details

Gene

BLOC1S4

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018366.2	911	UTR 3			NP_060836.1

Gene

MRFAP1L1

Gene Name

Morf4 family associated protein 1 like 1

There are no transcripts associated with this gene.

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