Product Details

SNP ID

rs145325896

Assay Type

Functionally Tested

NCBI dbSNP Submissions

5

Location

Chr.1:244843135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGATATTATATGAAGGTACCCAC[C/T]TCGATCCTGAAAGAAAACACAACGG

Phenotype

MIM: 614698 MIM: 602869

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

COX20 PubMed Links

Additional Information

For this assay, SNP(s) [rs1053697] 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

COX20

Gene Name

COX20, cytochrome c oxidase assembly factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001312871.1	583	Missense Mutation	CTC,TTC	L106F	NP_001299800.1
NM_001312872.1	583	Missense Mutation	CTC,TTC	L118F	NP_001299801.1
NM_001312873.1	583	Missense Mutation	CTC,TTC	L61F	NP_001299802.1
NM_001312874.1	583	UTR 3			NP_001299803.1
NM_198076.5	583	Missense Mutation	CTC,TTC	L106F	NP_932342.1

Gene

HNRNPU

Gene Name

heterogeneous nuclear ribonucleoprotein U

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004501.3	583	Intron			NP_004492.2
NM_031844.2	583	Intron			NP_114032.2
XM_017001115.1	583	UTR 3			XP_016856604.1
XM_017001116.1	583	UTR 3			XP_016856605.1
XM_017001117.1	583	UTR 3			XP_016856606.1

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