Product Details

SNP ID
rs1013075
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:117478856 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTCAGGGATTAGAGGGTTGGCTC[C/T]TTAAAAACCGTCAGAGACACAGGCA
Phenotype
MIM: 602421
Polymorphism
C/T, Transition 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_000492.3 200 Intron NP_000483.3
XM_011515751.2 200 Intron XP_011514053.1
XM_011515753.1 200 Intron XP_011514055.1
XM_011515754.2 200 UTR 5 XP_011514056.1
XM_017011699.1 200 UTR 5 XP_016867188.1

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