Product Details

SNP ID

rs4319784

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31527861 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGATGCAGGGCGTTTCTATCTTA[G/A]GCTGACACTTGACTCCTTGCCTACA

Phenotype

MIM: 605821

Polymorphism

G/A, 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	10	UTR 5			NP_001305150.1
NM_001318222.1	10	Intron			NP_001305151.1
NM_016633.3	10	UTR 5			NP_057717.1

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