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- SNP ID:
- rs113993960
- Gene
-
CFTR - Gene Name
- Set Membership:
- > Qualified
- Chromosome Location:
- Chr.7: 117559592 - 117559594 on Build GRCh38
- Polymorphism:
- -/CTT, Insertion/deletion
- Context Sequence [VIC/FAM]:
TGGCACCATTAAAGAAAATATCAT[-/CTT]TGGTGTTTCCTATGATGAATATAG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602421
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Literature Links: |
CFTR PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
CFTR c.1521_1523delCTT,p.Phe508del
c.1521_1523delCTT
F508del
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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| CFTR - cystic fibrosis transmembrane conductance regulator | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000492.3 | 2718 | Silent Mutation | NP_000483.3 | |||
| XM_011515751.2 | 2718 | Frame Shift Delete | XP_011514053.1 | |||
| XM_011515753.1 | 2718 | Frame Shift Delete | XP_011514055.1 | |||
| XM_011515754.2 | 2718 | Frame Shift Delete | XP_011514056.1 | |||
| XM_017011699.1 | 2718 | Frame Shift Delete | XP_016867188.1 | |||
Back To TopMore Information
Set Membership: |
Qualified
|
Panther Classification:
Gene Ontology Categories:
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