Product Details

SNP ID
rs143161842
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73078750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGACGTTCCAGTTTGCCTGATAC[A/G]TGCAGAACGTTCAGTCCCAATAGGG
Phenotype
MIM: 615929 MIM: 610428
Polymorphism
A/G, 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 6677 Missense Mutation CGT,TGT R2321C NP_001273700.1
NM_015574.1 6677 Missense Mutation CGT,TGT R2433C NP_056389.1
NM_032217.4 6677 Missense Mutation CGT,TGT R2434C NP_115593.3
NM_198889.2 6677 Missense Mutation CGT,TGT R2183C NP_942592.1
XM_005265671.3 6677 Missense Mutation CGT,TGT R2182C XP_005265728.1
XM_005265672.3 6677 Intron XP_005265729.1
XM_005265673.3 6677 Intron XP_005265730.1
XM_017008011.1 6677 Missense Mutation CGT,TGT R2320C XP_016863500.1
XM_017008012.1 6677 Missense Mutation CGT,TGT R2070C XP_016863501.1
XM_017008013.1 6677 Missense Mutation CGT,TGT R2069C XP_016863502.1
XM_017008014.1 6677 Intron XP_016863503.1
XM_017008015.1 6677 Intron XP_016863504.1
XM_017008016.1 6677 Intron XP_016863505.1
XM_017008017.1 6677 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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