Product Details

SNP ID

rs200866394

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55721236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTACTCTGGGCAGTGCTGTGGTTG[A/C]TCAGGGACCGGCAGAGCCTGCCCGC

Phenotype

MIM: 601444 MIM: 155740 MIM: 600536 MIM: 601617

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S1 PubMed Links

Gene Details

Gene

BLOC1S1

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 1

There are no transcripts associated with this gene.

Gene

BLOC1S1-RDH5

Gene Name

BLOC1S1-RDH5 readthrough

There are no transcripts associated with this gene.

Gene

CD63

Gene Name

CD63 molecule

There are no transcripts associated with this gene.

Gene

ITGA7

Gene Name

integrin subunit alpha 7

There are no transcripts associated with this gene.

Gene

RDH5

Gene Name

retinol dehydrogenase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199771.1	235	Missense Mutation	ATC,CTC	I18L	NP_001186700.1
NM_002905.3	235	Missense Mutation	ATC,CTC	I18L	NP_002896.2

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