Product Details

SNP ID

rs140843867

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:73076963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGTTTGAGGGCCATTATTTTCCG[G/T]GGAGCTGGAAACCATCTTTATCAGT

Phenotype

MIM: 615929 MIM: 610428

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

ANKRD17 PubMed Links

Additional Information

For this assay, SNP(s) [rs2306058] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	7106	Missense Mutation	ACG,CCG	T2464P	NP_001273700.1
NM_015574.1	7106	Missense Mutation	ACG,CCG	T2576P	NP_056389.1
NM_032217.4	7106	Missense Mutation	ACG,CCG	T2577P	NP_115593.3
NM_198889.2	7106	Missense Mutation	ACG,CCG	T2326P	NP_942592.1
XM_005265671.3	7106	Missense Mutation	ACG,CCG	T2325P	XP_005265728.1
XM_005265672.3	7106	Intron			XP_005265729.1
XM_005265673.3	7106	Intron			XP_005265730.1
XM_017008011.1	7106	Missense Mutation	ACG,CCG	T2463P	XP_016863500.1
XM_017008012.1	7106	Missense Mutation	ACG,CCG	T2213P	XP_016863501.1
XM_017008013.1	7106	Missense Mutation	ACG,CCG	T2212P	XP_016863502.1
XM_017008014.1	7106	Intron			XP_016863503.1
XM_017008015.1	7106	Intron			XP_016863504.1
XM_017008016.1	7106	Intron			XP_016863505.1
XM_017008017.1	7106	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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