Product Details

SNP ID
rs182026801
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50517356 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCATCACCCAGAAATTTATCATC[C/T]GTAAACTCAAACCCATGGATCCTAG
Phenotype
MIM: 609835
Polymorphism
C/T, 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_032133.4 402 Missense Mutation CGT,TGT R133C NP_115509.4
XM_005257725.3 402 Missense Mutation CGT,TGT R133C XP_005257782.1
XM_005257726.2 402 Missense Mutation CGT,TGT R133C XP_005257783.1
XM_011525342.1 402 Missense Mutation CGT,TGT R133C XP_011523644.1
XM_011525343.1 402 Missense Mutation CGT,TGT R133C XP_011523645.1
XM_017025205.1 402 Missense Mutation CGT,TGT R133C XP_016880694.1

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