Product Details

SNP ID

rs56126158

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:54842895 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTACAATGAGGACAAGACCCACA[A/T]AGACCACAAAGGAAACCGGGACCAG

Phenotype

MIM: 600225

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

GCH1 PubMed Links

Additional Information

For this assay, SNP(s) [rs76009965] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GCH1

Gene Name

GTP cyclohydrolase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000161.2	2036	UTR 3			NP_000152.1
NM_001024024.1	2036	UTR 3			NP_001019195.1
NM_001024070.1	2036	UTR 3			NP_001019241.1
NM_001024071.1	2036	UTR 3			NP_001019242.1
XM_017021218.1	2036	UTR 3			XP_016876707.1

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