Product Details

SNP ID
rs146573039
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50517357 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCATCACCCAGAAATTTATCATCC[A/G]TAAACTCAAACCCATGGATCCTAGG
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_032133.4 403 Missense Mutation CAT,CGT H133R NP_115509.4
XM_005257725.3 403 Missense Mutation CAT,CGT H133R XP_005257782.1
XM_005257726.2 403 Missense Mutation CAT,CGT H133R XP_005257783.1
XM_011525342.1 403 Missense Mutation CAT,CGT H133R XP_011523644.1
XM_011525343.1 403 Missense Mutation CAT,CGT H133R XP_011523645.1
XM_017025205.1 403 Missense Mutation CAT,CGT H133R XP_016880694.1

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