Product Details

SNP ID
rs113141749
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50517619 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCCCGGTGACAGCTTCGATGGCA[A/G]TGACCAGATCCTGCCCCACCACATC
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_032133.4 568 Missense Mutation AAT,AGT N173S NP_115509.4
XM_005257725.3 568 Missense Mutation AAT,AGT N188S XP_005257782.1
XM_005257726.2 568 Missense Mutation AAT,AGT N188S XP_005257783.1
XM_011525342.1 568 Missense Mutation AAT,AGT N188S XP_011523644.1
XM_011525343.1 568 Missense Mutation AAT,AGT N188S XP_011523645.1
XM_017025205.1 568 Missense Mutation AAT,AGT N188S XP_016880694.1

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