Product Details

SNP ID
rs12782963
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100288451 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ACGGGAGAGTCTCCTCTCCTCTAAG[G/T]CTTCCTCTTCTCTTTTATAGGGAAC
Phenotype
MIM: 609768 MIM: 604532
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
There are no transcripts associated with this gene.

Gene
PKD2L1
Gene Name
polycystin 2 like 1, transient receptor potential cation channel
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253837.1 2912 Missense Mutation NP_001240766.1
NM_016112.2 2912 Missense Mutation NP_057196.2
XM_011540323.2 2912 UTR 3 XP_011538625.1
XM_011540325.2 2912 UTR 3 XP_011538627.1
XM_017016875.1 2912 UTR 3 XP_016872364.1
XM_017016876.1 2912 UTR 3 XP_016872365.1

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