Product Details

SNP ID
rs144049475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31528475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCCAGGTCTTCAATGATCCTCT[C/T]GTCTCTGAAGAAGACATGGTGACTG
Phenotype
MIM: 605821
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AHSP PubMed Links

Gene Details

Gene
AHSP
Gene Name
alpha hemoglobin stabilizing protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318221.1 208 Silent Mutation CTC,CTT L31L NP_001305150.1
NM_001318222.1 208 Silent Mutation CTC,CTT L31L NP_001305151.1
NM_016633.3 208 Silent Mutation CTC,CTT L31L NP_057717.1

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