Product Details

SNP ID
rs188237044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73078767 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGATACGTGCAGAACGTTCAGTC[C/T]CAATAGGGACTGGAACTTTCCTGTC
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 6660 Missense Mutation GAG,GGG E2315G NP_001273700.1
NM_015574.1 6660 Missense Mutation GAG,GGG E2427G NP_056389.1
NM_032217.4 6660 Missense Mutation GAG,GGG E2428G NP_115593.3
NM_198889.2 6660 Missense Mutation GAG,GGG E2177G NP_942592.1
XM_005265671.3 6660 Missense Mutation GAG,GGG E2176G XP_005265728.1
XM_005265672.3 6660 Intron XP_005265729.1
XM_005265673.3 6660 Intron XP_005265730.1
XM_017008011.1 6660 Missense Mutation GAG,GGG E2314G XP_016863500.1
XM_017008012.1 6660 Missense Mutation GAG,GGG E2064G XP_016863501.1
XM_017008013.1 6660 Missense Mutation GAG,GGG E2063G XP_016863502.1
XM_017008014.1 6660 Intron XP_016863503.1
XM_017008015.1 6660 Intron XP_016863504.1
XM_017008016.1 6660 Intron XP_016863505.1
XM_017008017.1 6660 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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