Product Details

SNP ID
rs34398074
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:5225644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATTAGCCACACCAGCCACCACT[T/G]TCTGATAGGCAGCCTGCACTGGTGG
Phenotype
MIM: 141900 MIM: 142000
Polymorphism
T/G, 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_000518.4 448 Missense Mutation AAA,ACA K133T NP_000509.1
Gene
HBD
Gene Name
hemoglobin subunit delta
There are no transcripts associated with this gene.

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