Product Details

SNP ID
rs199597228
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:14752850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAATACTGACAGGCTCTACAATG[C/T]GAGAGGGAGGCTTGTGCAAATATTC
Phenotype
MIM: 616565
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD30B PubMed Links

Gene Details

Gene
ANKRD30B
Gene Name
ankyrin repeat domain 30B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145029.1 433 Silent Mutation TGC,TGT C116C NP_001138501.1
XM_006722325.3 433 Intron XP_006722388.1
XM_011525662.2 433 Silent Mutation TGC,TGT C116C XP_011523964.1
XM_011525664.2 433 Intron XP_011523966.1
XM_011525665.2 433 Silent Mutation TGC,TGT C116C XP_011523967.1
XM_011525666.2 433 Silent Mutation TGC,TGT C116C XP_011523968.1

View Full Product Details