Product Details

SNP ID
rs111670534
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100280999 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAATATCTTTCATTTCAAGATAC[C/T]TCAAGCTGGTGAGTTTATTCATATT
Phenotype
MIM: 609768 MIM: 604532
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BLOC1S2 PubMed Links

Gene Details

Gene
BLOC1S2
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001342.2 379 Missense Mutation AAG,AGG K33R NP_001001342.1
NM_001282436.1 379 Missense Mutation AAG,AGG K29R NP_001269365.1
NM_001282437.1 379 Missense Mutation AAG,AGG K33R NP_001269366.1
NM_001282438.1 379 Missense Mutation AAG,AGG K33R NP_001269367.1
NM_001282439.1 379 Missense Mutation AAG,AGG K76R NP_001269368.1
NM_173809.4 379 Missense Mutation AAG,AGG K76R NP_776170.2
XM_017016102.1 379 Missense Mutation AAG,AGG K33R XP_016871591.1
Gene
PKD2L1
Gene Name
polycystin 2 like 1, transient receptor potential cation channel
There are no transcripts associated with this gene.

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