Product Details

SNP ID
rs199549929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100275487 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATCGCTTCTCCAGCTTCTTGTAC[G/T]TGGCTTCTGTGAGGGATGAGGGAGA
Phenotype
MIM: 609768 MIM: 616120
Polymorphism
G/T, Transversion 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_001001342.2 457 Missense Mutation AAG,ACG K92T NP_001001342.1
NM_001282436.1 457 Missense Mutation AAG,ACG K88T NP_001269365.1
NM_001282437.1 457 Missense Mutation AAG,ACG K92T NP_001269366.1
NM_001282438.1 457 Missense Mutation AAG,ACG K92T NP_001269367.1
NM_001282439.1 457 Missense Mutation AAG,ACG K134T NP_001269368.1
NM_173809.4 457 Missense Mutation AAG,ACG K135T NP_776170.2
XM_017016102.1 457 Intron XP_016871591.1
Gene
CWF19L1
Gene Name
CWF19-like 1, cell cycle control (S. pombe)
There are no transcripts associated with this gene.

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