Product Details

SNP ID

rs58036904

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6709146 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAAAATGGGGGATGCAGGCCTAGA[A/C]CATAACTTTTTACAGGGCGCGGTTT

Phenotype

MIM: 605695

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S4 PubMed Links

Gene Details

Gene

BLOC1S4

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 4

There are no transcripts associated with this gene.

Gene

MRFAP1L1

Gene Name

Morf4 family associated protein 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203462.2		Intron			NP_982287.1
XM_005247932.1		Intron			XP_005247989.1

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