Product Details

SNP ID

rs199639598

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62807559 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACCGGTTGGAGGTGACAGACTG[C/G]AAGTACTTGAGGATCTCTGAATGGG

Phenotype

MIM: 602647 MIM: 603189

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

NXF1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2228626] 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

NXF1

Gene Name

nuclear RNA export factor 1

There are no transcripts associated with this gene.

Gene

STX5

Gene Name

syntaxin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244666.1	1135	UTR 3			NP_001231595.1
NM_003164.4	1135	Missense Mutation	TTC,TTG	F326L	NP_003155.2
XM_011545223.2	1135	Missense Mutation	TTC,TTG	F272L	XP_011543525.1
XM_011545224.2	1135	Missense Mutation	TTC,TTG	F230L	XP_011543526.1

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