Product Details

SNP ID
rs200868879
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8189633 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACCGCACGCCTCGCTCAGCCCGT[C/T]CAGGCTGCGGCTGTCCTGAAGACGG
Phenotype
MIM: 616599
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BORCS6 PubMed Links

Gene Details

Gene
BORCS6
Gene Name
BLOC-1 related complex subunit 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017622.2 614 Missense Mutation AAC,GAC N170D NP_060092.2
Gene
MIR4521
Gene Name
microRNA 4521
There are no transcripts associated with this gene.

View Full Product Details