Product Details

SNP ID

rs201478487

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52221350 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGGCCAGAGGAGGACACTCTGG[C/T]GGCAGAGGCGCTGGCGCAGCCGCAC

Phenotype

MIM: 125290 MIM: 605474 MIM: 607433

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALAS1 PubMed Links

Gene Details

Gene

ALAS1

Gene Name

5'-aminolevulinate synthase 1

There are no transcripts associated with this gene.

Gene

TLR9

Gene Name

toll like receptor 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017442.3	3600	Missense Mutation	CAC,CGC	H989R	NP_059138.1

Gene

TWF2

Gene Name

twinfilin actin binding protein 2

There are no transcripts associated with this gene.

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