Product Details

SNP ID

rs281864530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:5225649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCCACACCAGCCACCACTTTCTG[T/A]TAGGCAGCCTGCACTGGTGGGGTGA

Phenotype

MIM: 141900 MIM: 142000

Polymorphism

T/A, Transversion substitution

Allele Nomenclature

Literature Links

HBB PubMed Links

Gene Details

Gene

HBB

Gene Name

hemoglobin subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000518.4	443	Nonsense Mutation	TAA,TAT	*131Y	NP_000509.1

Gene

HBD

Gene Name

hemoglobin subunit delta

There are no transcripts associated with this gene.

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