Product Details

SNP ID

rs143708112

Assay Type

Functionally Tested

NCBI dbSNP Submissions

4

Location

Chr.1:11668903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGGAAAATCTTCTACTTCCTAC[A/G]GAGCCTGCATAGGAACCTCCTGCGC

Phenotype

MIM: 609111 MIM: 605647 MIM: 604094

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

FBXO44 PubMed Links

Additional Information

For this assay, SNP(s) [rs7514198] 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

FBXO44

Gene Name

F-box protein 44

There are no transcripts associated with this gene.

Gene

FBXO6

Gene Name

F-box protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018438.5	351	Missense Mutation	CAG,CGG	Q82R	NP_060908.1
XM_005263448.4	351	Missense Mutation	CAG,CGG	Q82R	XP_005263505.1
XM_005263449.4	351	Missense Mutation	CAG,CGG	Q82R	XP_005263506.1
XM_005263451.4	351	Missense Mutation	CAG,CGG	Q82R	XP_005263508.1
XM_006710571.3	351	Missense Mutation	CAG,CGG	Q82R	XP_006710634.1
XM_011541232.2	351	Missense Mutation	CAG,CGG	Q82R	XP_011539534.1
XM_017001007.1	351	Missense Mutation	CAG,CGG	Q82R	XP_016856496.1

Gene

MAD2L2

Gene Name

MAD2 mitotic arrest deficient-like 2 (yeast)

There are no transcripts associated with this gene.

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