Product Details

SNP ID
rs183471606
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50516615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGAACAACCCACACCCACAATTC[A/G]GGAAGAGCCTGAACCTGTTAGCAAT
Phenotype
MIM: 609835
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MYCBPAP PubMed Links

Gene Details

Gene
MYCBPAP
Gene Name
MYCBP associated protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032133.4 256 Missense Mutation CAG,CGG Q84R NP_115509.4
XM_005257725.3 256 Missense Mutation CAG,CGG Q84R XP_005257782.1
XM_005257726.2 256 Missense Mutation CAG,CGG Q84R XP_005257783.1
XM_011525342.1 256 Missense Mutation CAG,CGG Q84R XP_011523644.1
XM_011525343.1 256 Missense Mutation CAG,CGG Q84R XP_011523645.1
XM_017025205.1 256 Missense Mutation CAG,CGG Q84R XP_016880694.1

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