Product Details

SNP ID

rs200008612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:5269572 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTCCAAAGGAAGTCAGCACCTTC[C/T]TGCCATGGGCCTTGACCTTGGGGTT

Phenotype

MIM: 142100

Polymorphism

C/T, Transition 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	450	Missense Mutation			NP_005321.1

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