Product Details

SNP ID
rs138933333
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31528520 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACTGTGGTGGAGGACTGGATGAA[C/T]TTCTACATCAACTATTACAGGCAGC
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_001318221.1 253 Silent Mutation AAC,AAT N46N NP_001305150.1
NM_001318222.1 253 Silent Mutation AAC,AAT N46N NP_001305151.1
NM_016633.3 253 Silent Mutation AAC,AAT N46N NP_057717.1

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