Product Details

SNP ID

rs142944540

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31528550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCAACTATTACAGGCAGCAGGT[C/G]ACAGGGGAGCCCCAAGAGCGAGACA

Phenotype

MIM: 605821

Polymorphism

C/G, 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	283	Silent Mutation	GTC,GTG	V56V	NP_001305150.1
NM_001318222.1	283	Silent Mutation	GTC,GTG	V56V	NP_001305151.1
NM_016633.3	283	Silent Mutation	GTC,GTG	V56V	NP_057717.1

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