Product Details

SNP ID

rs117856897

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:214679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGGCCGGAGGTCGGCGGCCCCGG[A/G]CAGAGCGCGCCGTCTGCCCCAGTAT

Phenotype

MIM: 611432

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C9orf66 PubMed Links

Additional Information

For this assay, SNP(s) [rs116104753,rs540473] 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

C9orf66

Gene Name

chromosome 9 open reading frame 66

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152569.2	1215	Missense Mutation	CCC,TCC	P240S	NP_689782.2

Gene

DOCK8

Gene Name

dedicator of cytokinesis 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190458.1	1215	Intron			NP_001177387.1
NM_001193536.1	1215	Intron			NP_001180465.1
NM_203447.3	1215	Intron			NP_982272.2
XM_011518045.2	1215	Intron			XP_011516347.1
XM_011518046.2	1215	Intron			XP_011516348.1
XM_011518047.2	1215	Intron			XP_011516349.1
XM_011518048.2	1215	Intron			XP_011516350.1
XM_011518049.2	1215	Intron			XP_011516351.1
XM_017015173.1	1215	Intron			XP_016870662.1
XM_017015174.1	1215	Intron			XP_016870663.1

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