Product Details

SNP ID
rs121909045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:117480113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGACCATGCAGAGGTCGCCTCTG[G/T]AAAAGGCCAGCGTTGTCTCCAAACT
Phenotype
MIM: 602421
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CFTR PubMed Links

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_000492.3 151 Missense Mutation GAA,TAA E7* NP_000483.3
XM_011515751.2 151 Intron XP_011514053.1
XM_011515753.1 151 Intron XP_011514055.1
XM_011515754.2 151 Intron XP_011514056.1
XM_017011699.1 151 Intron XP_016867188.1

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