Product Details

SNP ID
rs1804040
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55725830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTTACCTCGACAAAAGCAATTC[C/T]AAGGGCTGCTGCAGCTACCACCAGC
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_001257389.1 775 Missense Mutation AGA,GGA R212G NP_001244318.1
NM_001257390.1 775 Missense Mutation AGA,GGA R212G NP_001244319.1
NM_001257391.1 775 Missense Mutation AGA,GGA R212G NP_001244320.1
NM_001257392.1 775 Missense Mutation AGA,GGA R189G NP_001244321.1
NM_001257400.1 775 Missense Mutation AGA,GGA R130G NP_001244329.1
NM_001257401.1 775 Missense Mutation AGA,GGA R130G NP_001244330.1
NM_001267698.1 775 Missense Mutation AGA,GGA R212G NP_001254627.1
NM_001780.5 775 Missense Mutation AGA,GGA R212G 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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