Product Details

SNP ID
rs186307346
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73077029 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCAGCATGAGGGCCATTAAATA[G/T]GGGTCCTCCAGCACCATCAGGGATA
Phenotype
MIM: 615929 MIM: 610428
Polymorphism
G/T, 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 7040 Missense Mutation ATA,CTA I2442L NP_001273700.1
NM_015574.1 7040 Missense Mutation ATA,CTA I2554L NP_056389.1
NM_032217.4 7040 Missense Mutation ATA,CTA I2555L NP_115593.3
NM_198889.2 7040 Missense Mutation ATA,CTA I2304L NP_942592.1
XM_005265671.3 7040 Missense Mutation ATA,CTA I2303L XP_005265728.1
XM_005265672.3 7040 Intron XP_005265729.1
XM_005265673.3 7040 Intron XP_005265730.1
XM_017008011.1 7040 Missense Mutation ATA,CTA I2441L XP_016863500.1
XM_017008012.1 7040 Missense Mutation ATA,CTA I2191L XP_016863501.1
XM_017008013.1 7040 Missense Mutation ATA,CTA I2190L XP_016863502.1
XM_017008014.1 7040 Intron XP_016863503.1
XM_017008015.1 7040 Intron XP_016863504.1
XM_017008016.1 7040 Intron XP_016863505.1
XM_017008017.1 7040 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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