Product Details

SNP ID

rs3190232

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55725885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCCTCAGCCAGCCCCCAATCTT[C/T]TCCACACAGCCCTGAAGGTGGCAGG

Phenotype

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

Polymorphism

C/T, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257389.1	720	Silent Mutation	GAA,GAG	E193E	NP_001244318.1
NM_001257390.1	720	Silent Mutation	GAA,GAG	E193E	NP_001244319.1
NM_001257391.1	720	Silent Mutation	GAA,GAG	E193E	NP_001244320.1
NM_001257392.1	720	Silent Mutation	GAA,GAG	E170E	NP_001244321.1
NM_001257400.1	720	Silent Mutation	GAA,GAG	E111E	NP_001244329.1
NM_001257401.1	720	Silent Mutation	GAA,GAG	E111E	NP_001244330.1
NM_001267698.1	720	Silent Mutation	GAA,GAG	E193E	NP_001254627.1
NM_001780.5	720	Silent Mutation	GAA,GAG	E193E	NP_001771.1

Gene

ITGA7

Gene Name

integrin subunit alpha 7

There are no transcripts associated with this gene.

Gene

RDH5

Gene Name

retinol dehydrogenase 5

There are no transcripts associated with this gene.

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