Product Details

SNP ID
rs75782426
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31528606 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGGAGCTTCGGCAAGAGCTGA[A/T]CACTCTGGCCAACCCTTTCCTGGCC
Phenotype
MIM: 605821
Polymorphism
A/T, Transversion 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_001318221.1 339 Missense Mutation AAC,ATC N75I NP_001305150.1
NM_001318222.1 339 Missense Mutation AAC,ATC N75I NP_001305151.1
NM_016633.3 339 Missense Mutation AAC,ATC N75I NP_057717.1

View Full Product Details