Product Details

SNP ID
rs200095376
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50508687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGGGCGGCACCATGAAGTCTCTA[A/G]AGAAGGATTCCCGCCTCAGAATAAC
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_032133.4 147 Missense Mutation AAG,GAG K48E NP_115509.4
XM_005257725.3 147 Missense Mutation AAG,GAG K48E XP_005257782.1
XM_005257726.2 147 Missense Mutation AAG,GAG K48E XP_005257783.1
XM_011525342.1 147 Missense Mutation AAG,GAG K48E XP_011523644.1
XM_011525343.1 147 Missense Mutation AAG,GAG K48E XP_011523645.1
XM_017025205.1 147 Missense Mutation AAG,GAG K48E XP_016880694.1

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