Product Details

SNP ID

rs185254020

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:55805379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACTCTTGTCTTTTGGCTTCAAAG[A/G]TTTCTTGAAAACTAAAGAGAAATGT

Phenotype

MIM: 612140

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

SEPT14 PubMed Links

Additional Information

For this assay, SNP(s) [rs13233180] 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

SEPT14

Gene Name

septin 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207366.2	1099	Missense Mutation	ACC,ATC	T333I	NP_997249.2
XM_011515373.2	1099	Missense Mutation	ACC,ATC	T333I	XP_011513675.1

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