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search submit
CD00004
DNA
from
LCL
Description:
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
CYSTIC FIBROSIS; CF
Affected:
No Data
Sex:
Female
Age:
27
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Repository
Centers for Disease Control and Prevention Repository
Class
Other Disorders of Known Biochemistry
Quantity
10 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from LCL
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Donor subject has one allele with a G>A substitution at nucleotide 1898+1 (1898+1G>A) in intron 12 of the CFTR gene which results in an mRNA splicing defect; a second allele tested negative for the S1235R mutation and the mutations represented in the ACMG Core Mutation Panel; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract within the splice acceptor site in intron 8) showed this donor to have an IVS8-T allele status of 7T/9T
Gene
CFTR
Chromosomal Location
7q31.2
Allelic Variant 1
; CYSTIC FIBROSIS
Identified Mutation
1898+1 G>A
Remarks
Donor subject has one allele with a G>A substitution at nucleotide 1898+1 (1898+1G>A) in intron 12 of the CFTR gene which results in an mRNA splicing defect; a second allele tested negative for the S1235R mutation and the mutations represented in the ACMG Core Mutation Panel; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract within the splice acceptor site in intron 8) showed this donor to have an IVS8-T allele status of 7T/9T
No data is available
dbSNP
dbSNP ID: 21722
Gene Cards
CFTR
Gene Ontology
GO:0005216 ion channel activity
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006811 ion transport
GO:0007585 respiratory gaseous exchange
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
NCBI Gene
Gene ID:1080
NCBI GTR
219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
OMIM
219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Omim Description
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
No data is available
Supplement
-
Pricing
Commercial:
$170.00
USD
Academic &
Non-profit:
$110.00
USD
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