Product Details

SNP ID

rs33956485

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:5232983 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGATCTCAATGGTACTTGTGAGCC[G/A]GGGCATTAGCCACACCAGCCACCAC

Phenotype

MIM: 141900 MIM: 142000

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

HBB PubMed Links

Gene Details

Gene

HBB

Gene Name

hemoglobin subunit beta

There are no transcripts associated with this gene.

Gene

HBBP1

Gene Name

hemoglobin subunit beta pseudogene 1

There are no transcripts associated with this gene.

Gene

HBD

Gene Name

hemoglobin subunit delta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000519.3	620	Missense Mutation	CCG,CTG	P142L	NP_000510.1

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