Product Details

SNP ID
rs200558680
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73076994 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAAACCATCTTTATCAGTGAGTT[A/C]CAAGAAGGGTCTGCAGCATGAGGGC
Phenotype
MIM: 615929 MIM: 610428
Polymorphism
A/C, Transversion 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 7075 Missense Mutation TGG,TGT W2453C NP_001273700.1
NM_015574.1 7075 Missense Mutation TGG,TGT W2565C NP_056389.1
NM_032217.4 7075 Missense Mutation TGG,TGT W2566C NP_115593.3
NM_198889.2 7075 Missense Mutation TGG,TGT W2315C NP_942592.1
XM_005265671.3 7075 Missense Mutation TGG,TGT W2314C XP_005265728.1
XM_005265672.3 7075 Intron XP_005265729.1
XM_005265673.3 7075 Intron XP_005265730.1
XM_017008011.1 7075 Missense Mutation TGG,TGT W2452C XP_016863500.1
XM_017008012.1 7075 Missense Mutation TGG,TGT W2202C XP_016863501.1
XM_017008013.1 7075 Missense Mutation TGG,TGT W2201C XP_016863502.1
XM_017008014.1 7075 Intron XP_016863503.1
XM_017008015.1 7075 Intron XP_016863504.1
XM_017008016.1 7075 Intron XP_016863505.1
XM_017008017.1 7075 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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