Product Details

SNP ID

rs148162793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:5268558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTCAGGGGTGAACTCCTTGCCAA[A/G]GTGAGTAGCCAGAATAATCACCATC

Phenotype

MIM: 142100

Polymorphism

A/G, 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	608	Missense Mutation	CTT,TTT	L119F	NP_005321.1

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