Product Details

SNP ID
rs150262000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73077437 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGTTACAATTCCTGTACTATCT[C/T]GCTCCATTGCTTGATGTTGTGAAAA
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 6882 Missense Mutation CAA,CGA Q2389R NP_001273700.1
NM_015574.1 6882 Missense Mutation CAA,CGA Q2501R NP_056389.1
NM_032217.4 6882 Missense Mutation CAA,CGA Q2502R NP_115593.3
NM_198889.2 6882 Missense Mutation CAA,CGA Q2251R NP_942592.1
XM_005265671.3 6882 Missense Mutation CAA,CGA Q2250R XP_005265728.1
XM_005265672.3 6882 Intron XP_005265729.1
XM_005265673.3 6882 Intron XP_005265730.1
XM_017008011.1 6882 Missense Mutation CAA,CGA Q2388R XP_016863500.1
XM_017008012.1 6882 Missense Mutation CAA,CGA Q2138R XP_016863501.1
XM_017008013.1 6882 Missense Mutation CAA,CGA Q2137R XP_016863502.1
XM_017008014.1 6882 Intron XP_016863503.1
XM_017008015.1 6882 Intron XP_016863504.1
XM_017008016.1 6882 Intron XP_016863505.1
XM_017008017.1 6882 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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