Product Details

SNP ID
rs199529310
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52417120 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGACTGAAGCTCAATTACCATGAC[A/G]CCACTGTCAAACACACGGAGCCTGA
Phenotype
MIM: 610903
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
VPS36 PubMed Links

Gene Details

Gene
VPS36
Gene Name
vacuolar protein sorting 36 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282168.1 1145 Silent Mutation GGC,GGT G300G NP_001269097.1
NM_001282169.1 1145 Silent Mutation GGC,GGT G251G NP_001269098.1
NM_016075.3 1145 Silent Mutation GGC,GGT G309G NP_057159.2

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