Product Details

SNP ID

rs12931536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:180769 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACGGCCAGAAGGTGGCGGACGCG[A/C]TGAGCCTCGCCGTGGAGCGCCTGGA

Phenotype

MIM: 141800 MIM: 141850 MIM: 142240 MIM: 607782

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HBA1 PubMed Links

Gene Details

Gene

HBA1

Gene Name

hemoglobin subunit alpha 1

There are no transcripts associated with this gene.

Gene

HBA2

Gene Name

hemoglobin subunit alpha 2

There are no transcripts associated with this gene.

Gene

HBQ1

Gene Name

hemoglobin subunit theta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005331.4	352	Missense Mutation	ATG,CTG	M67L	NP_005322.1

Gene

LUC7L

Gene Name

LUC7 like

There are no transcripts associated with this gene.

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