Product Details

SNP ID

rs118103386

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:117486989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGTAGTTGAAGGTGAAGGAAAGA[A/G]AAGAGTTAAGGATAACATCTATATT

Phenotype

MIM: 602421

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CFTR PubMed Links

Additional Information

For this assay, SNP(s) [rs138257490] 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

CFTR

Gene Name

cystic fibrosis transmembrane conductance regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000492.3		Intron			NP_000483.3
XM_011515751.2		Intron			XP_011514053.1
XM_011515753.1		Intron			XP_011514055.1
XM_011515754.2		Intron			XP_011514056.1
XM_017011699.1		Intron			XP_016867188.1

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