Product Details

SNP ID
rs138383779
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73078826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTGCTGGGCTTTTCTGACCCTAA[C/T]GGTACTGATGATGGGGCAGGAGATG
Phenotype
MIM: 615929 MIM: 610428
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD17 PubMed Links

Gene Details

Gene
ANKRD17
Gene Name
ankyrin repeat domain 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286771.2 6601 Silent Mutation CCA,CCG P2295P NP_001273700.1
NM_015574.1 6601 Silent Mutation CCA,CCG P2407P NP_056389.1
NM_032217.4 6601 Silent Mutation CCA,CCG P2408P NP_115593.3
NM_198889.2 6601 Silent Mutation CCA,CCG P2157P NP_942592.1
XM_005265671.3 6601 Silent Mutation CCA,CCG P2156P XP_005265728.1
XM_005265672.3 6601 Intron XP_005265729.1
XM_005265673.3 6601 Intron XP_005265730.1
XM_017008011.1 6601 Silent Mutation CCA,CCG P2294P XP_016863500.1
XM_017008012.1 6601 Silent Mutation CCA,CCG P2044P XP_016863501.1
XM_017008013.1 6601 Silent Mutation CCA,CCG P2043P XP_016863502.1
XM_017008014.1 6601 Intron XP_016863503.1
XM_017008015.1 6601 Intron XP_016863504.1
XM_017008016.1 6601 Intron XP_016863505.1
XM_017008017.1 6601 Intron XP_016863506.1
Gene
COX18
Gene Name
COX18, cytochrome c oxidase assembly factor
There are no transcripts associated with this gene.

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