Product Details

SNP ID
rs34980264
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:5225621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTAGTGATACTTGTGGGCCAGGG[T/C]ATTAGCCACACCAGCCACCACTTTC
Phenotype
MIM: 141900 MIM: 142000
Polymorphism
T/C, Transition 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_000518.4 471 Missense Mutation ACC,GCC T141A NP_000509.1
Gene
HBD
Gene Name
hemoglobin subunit delta
There are no transcripts associated with this gene.

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