Product Details

SNP ID
rs34188626
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:5225646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTAGCCACACCAGCCACCACTTT[G/C]TGATAGGCAGCCTGCACTGGTGGGG
Phenotype
MIM: 141900 MIM: 142000
Polymorphism
G/C, 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_000518.4 446 Missense Mutation CAC,CAG H132Q NP_000509.1
Gene
HBD
Gene Name
hemoglobin subunit delta
There are no transcripts associated with this gene.

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