Product Details

SNP ID

rs113017423

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73242998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGTTGTAGCTGGAGTTTCAGAC[A/G]TCTGAGTAAGTCTTTCTATATTTCT

Phenotype

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C17orf80 PubMed Links

Additional Information

For this assay, SNP(s) [rs1566290,rs2270728] are located under a primer 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

C17orf80

Gene Name

chromosome 17 open reading frame 80

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100621.2	1859	Missense Mutation	CAT,CGT	H539R	NP_001094091.1
NM_001100622.2	1859	Missense Mutation	CAT,CGT	H575R	NP_001094092.1
NM_001288770.1	1859	Missense Mutation	CAT,CGT	H539R	NP_001275699.1
NM_001288771.1	1859	Missense Mutation	CAT,CGT	H539R	NP_001275700.1
NM_017941.5	1859	Missense Mutation	CAT,CGT	H575R	NP_060411.2
XM_005257487.3	1859	Missense Mutation	CAT,CGT	H575R	XP_005257544.1
XM_006721966.3	1859	Missense Mutation	CAT,CGT	H539R	XP_006722029.1
XM_011524961.1	1859	Missense Mutation	CAT,CGT	H575R	XP_011523263.1
XM_011524962.2	1859	Missense Mutation	CAT,CGT	H575R	XP_011523264.1
XM_017024806.1	1859	Missense Mutation	CAT,CGT	H575R	XP_016880295.1

Gene

CPSF4L

Gene Name

cleavage and polyadenylation specific factor 4 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001129885.1	1859	Intron			NP_001123357.1
XM_011525115.2	1859	Intron			XP_011523417.1

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