CD00026

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

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

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