Product Details

SNP ID
rs200711493
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:124669122 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACTTCCTGATGCCCTCTATCTTG[C/T]ATTGTTCGTGGGACTGAAACCCTAC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD50 PubMed Links

Gene Details

Gene
ANKRD50
Gene Name
ankyrin repeat domain 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167882.1 5926 Missense Mutation ATA,ATG I1206M NP_001161354.1
NM_020337.2 5926 Missense Mutation ATA,ATG I1385M NP_065070.1
XM_017008471.1 5926 Missense Mutation ATA,ATG I1385M XP_016863960.1

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