Product Details

SNP ID

rs104894273

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:112226517 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCATCTCCTTCAGCGCGAGCCACC[A/G]ATTGTACAGGTAGGGTGTGCACACA

Phenotype

MIM: 611740 MIM: 612719

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCO2 PubMed Links

Gene Details

Gene

BCO2

Gene Name

beta-carotene oxygenase 2

There are no transcripts associated with this gene.

Gene

PTS

Gene Name

6-pyruvoyltetrahydropterin synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000317.2	153	Missense Mutation	CAA,CGA	Q25R	NP_000308.1

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