Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCAAATATACACAAGGCTTGTCT[-/MU]TTTACCCTGCCAAAAGCAAAATCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602421 | ||||||||||||||||||||
Literature Links: |
CFTR PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
c.54-5940_273+10250del21kb CFTRdele2,3 c.54-5940_273+10250del21kb CFTRdele2,3 CFTR c.54-5940_273+10250del21kb,p.Ser18ArgfsX16 CFTR c.54-5940_273+10250del21kb,p.Ser18ArgfsX16 | ||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CFTR - cystic fibrosis transmembrane conductance regulator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000492.3 | Intron | NP_000483.3 |
Set Membership: |
Qualified |