Gene Mapping Assignment Instructions For this gene mapping project, you will map

Question

Gene Mapping Assignment Instructions For this gene mapping project, you will map the HBB hemoglobin, beta (Homo sapiens) gene with Gene ID: 3043. In order to map the gene and obtain information about the gene, you will need to find the following information: chromosome location, i.e., 2p3.4 RefSeq associated with the chromosome base pair location within the RefSeq identify three missense SNPs, by rs # using the SNPs identified, describe the allelic variation, amino acid variation, and the chromosome position of the SNP finally, describe how these SNPs alter the function of HBB Do not cut and paste your database results to report your findings. Write two to three paragraphs reporting the information you have obtained about this gene. Imagine this is a report you will present to an employer or a group of researchers interested in this particular gene.

Explanation / Answer

Answer

HBB is hemoglobin subunit beta is a protein coding gene in humans and it is also known as CD 113t-C, beta globin. The alpha (HBA) and beta (HBB) loci determines the structure of the 2 types of ploypeptide chains in adult hemoglobin. This plypeptide is 1606bp long. The normal adult hemoglobin tetramers consists of two alpha chains and two beta chains. The order of the genes in the beta-globi cluster is 5'-epsilon--gamma-G--gamma-A--delta--beta--3'.

The location of chromosomes : 11p.15.4

Primary source: HGNC:HGNC:4827

RefSeq: NG_000007.3

Range: 70545..72150

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