Product Details

SNP ID
rs104894434
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:54844108 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGCTGGTCACAGTTTTGCTGTTC[G/A]TTTTCTGTACACCTCGCATTACCAT
Phenotype
MIM: 600225
Polymorphism
G/A, 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_000161.2 823 Missense Mutation ACG,ATG T221M NP_000152.1
NM_001024024.1 823 Missense Mutation ACG,ATG T221M NP_001019195.1
NM_001024070.1 823 Intron NP_001019241.1
NM_001024071.1 823 Intron NP_001019242.1
XM_017021218.1 823 Missense Mutation ACG,ATG T123M XP_016876707.1

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