Product Details

SNP ID
rs17128017
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:54842102 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATAAAATTAAACAATTTAATTTTGA[A/G]CAGTGTATTGAAATACATCAAATTC
Phenotype
MIM: 600225
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GCH1 PubMed Links

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 2829 UTR 3 NP_000152.1
NM_001024024.1 2829 UTR 3 NP_001019195.1
NM_001024070.1 2829 UTR 3 NP_001019241.1
NM_001024071.1 2829 UTR 3 NP_001019242.1
XM_017021218.1 2829 UTR 3 XP_016876707.1

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