Product Details

SNP ID

rs145944666

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35286912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGGGTCTGCCGCCGCTCATCTG[A/G]TGCCCGTCTGGCAGGTCTGGCTGAG

Phenotype

MIM: 602912 MIM: 604871

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

EIF6 PubMed Links

Additional Information

For this assay, SNP(s) [rs2425049] 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

EIF6

Gene Name

eukaryotic translation initiation factor 6

There are no transcripts associated with this gene.

Gene

FAM83C

Gene Name

family with sequence similarity 83 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178468.5	1985	Missense Mutation	CCA,TCA	P623S	NP_848563.1

Gene

FAM83C-AS1

Gene Name

FAM83C antisense RNA 1

There are no transcripts associated with this gene.

Gene

MMP24

Gene Name

matrix metallopeptidase 24

There are no transcripts associated with this gene.

Gene

MMP24-AS1

Gene Name

MMP24 antisense RNA 1

There are no transcripts associated with this gene.

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