Product Details

SNP ID
rs61749930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50517330 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCTTACTGAAAAGGAAGATAAAC[A/G]TGTCATCACCCAGAAATTTATCATC
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_032133.4 376 Missense Mutation CAT,CGT H124R NP_115509.4
XM_005257725.3 376 Missense Mutation CAT,CGT H124R XP_005257782.1
XM_005257726.2 376 Missense Mutation CAT,CGT H124R XP_005257783.1
XM_011525342.1 376 Missense Mutation CAT,CGT H124R XP_011523644.1
XM_011525343.1 376 Missense Mutation CAT,CGT H124R XP_011523645.1
XM_017025205.1 376 Missense Mutation CAT,CGT H124R XP_016880694.1

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