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search submit
CD00026
DNA
from
LCL
Description:
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
ALPHA-THALASSEMIA (ALPHA-GLOBIN); TYPE 1 SEA HETEROZYGOTE
Affected:
No Data
Sex:
Male
Age:
56
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Overview
Repository
Centers for Disease Control and Prevention Repository
Class
Mutations of the Hemoglobin Loci
Quantity
10ug
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from LCL
Race
Asian
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Donor subject is an alpha-1 thalassemia heterozygote; SEA/negative (----SEA/alpha alpha).
Characterizations
Gene
HBA1
Chromosomal Location
16pter-p13.3
Allelic Variant 1
; ALPHA-THALASSEMIA TYPE 1
Identified Mutation
SEA Type Deletion
Phenotypic Data
Remarks
Donor subject is an alpha-1 thalassemia heterozygote; SEA/negative (----SEA/alpha alpha).
External Links
dbSNP
dbSNP ID: 16806
Gene Cards
HBA1
Gene Ontology
GO:0005344 oxygen transporter activity
GO:0005515 protein binding
GO:0005833 hemoglobin complex
GO:0006810 transport
GO:0015671 oxygen transport
NCBI Gene
Gene ID:3039
NCBI GTR
141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
OMIM
141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
Omim Description
3-PRIME @ALPHA-GLOBIN GENE
ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED
HEINZ BODY ANEMIAS, ALPHA-GLOBIN TYPE, INCLUDED
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
METHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED
MINOR ALPHA-GLOBIN LOCUSALPHA-THALASSEMIAS, INCLUDED
Culture Protocols
Supplement
-
Pricing
Commercial:
$225.00
USD
Academic &
Non-profit:
$114.00
USD
Add to Cart
How to Order
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RNA on Demand
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