Product Details

SNP ID

rs184037908

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:5269629 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGGCAGAGGGAGACGACAGGTTT[A/C]CAAAGCTGTCAAAAAATCTCTGGGT

Phenotype

MIM: 142100

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HBE1 PubMed Links

Gene Details

Gene

HBE1

Gene Name

hemoglobin subunit epsilon 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005330.3	393	Missense Mutation	GGA,GTA	G47V	NP_005321.1

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