Product Details

SNP ID

rs138154701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:112226460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGGGAAGATGAGCACGGAAGGTG[G/T]TGGCCGTCGCTGCCAGGCACAAGTG

Phenotype

MIM: 611740 MIM: 612719

Polymorphism

G/T, Transversion 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	96	Missense Mutation	GGT,GTT	G6V	NP_000308.1

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