Product Details

SNP ID

rs2306059

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:73077014 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGTTCCAAGAAGGGTCTGCAGCAT[A/G]AGGGCCATTAAATATGGGTCCTCCA

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	7055	Missense Mutation	CAT,TAT	H2447Y	NP_001273700.1
NM_015574.1	7055	Missense Mutation	CAT,TAT	H2559Y	NP_056389.1
NM_032217.4	7055	Missense Mutation	CAT,TAT	H2560Y	NP_115593.3
NM_198889.2	7055	Missense Mutation	CAT,TAT	H2309Y	NP_942592.1
XM_005265671.3	7055	Missense Mutation	CAT,TAT	H2308Y	XP_005265728.1
XM_005265672.3	7055	Intron			XP_005265729.1
XM_005265673.3	7055	Intron			XP_005265730.1
XM_017008011.1	7055	Missense Mutation	CAT,TAT	H2446Y	XP_016863500.1
XM_017008012.1	7055	Missense Mutation	CAT,TAT	H2196Y	XP_016863501.1
XM_017008013.1	7055	Missense Mutation	CAT,TAT	H2195Y	XP_016863502.1
XM_017008014.1	7055	Intron			XP_016863503.1
XM_017008015.1	7055	Intron			XP_016863504.1
XM_017008016.1	7055	Intron			XP_016863505.1
XM_017008017.1	7055	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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