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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)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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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

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Gene HBA1
Chromosomal Location 16pter-p13.3
Allelic Variant 1 ; ALPHA-THALASSEMIA TYPE 1
Identified Mutation SEA Type Deletion

Phenotypic Data

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Remarks Donor subject is an alpha-1 thalassemia heterozygote; SEA/negative (----SEA/alpha alpha).

External Links

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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

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Supplement -
Pricing
Commercial:
$225.00USD
Academic &
Non-profit:
$114.00USD
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