Product Details

SNP ID
rs34807671
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:5253282 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCATCATGGGCAGTGAGCTCAGT[A/G]GTATCTGGAGGACAGGGCACTGGCC
Phenotype
MIM: 616308 MIM: 142200 MIM: 142250
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BGLT3 PubMed Links

Gene Details

Gene
BGLT3
Gene Name
beta globin locus transcript 3 (non-protein coding)
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
HBG1
Gene Name
hemoglobin subunit gamma 1
There are no transcripts associated with this gene.

Gene
HBG2
Gene Name
hemoglobin subunit gamma 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000184.2 492 Missense Mutation CAC,TAC H147Y NP_000175.1

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