Product Details

SNP ID
rs113029133
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1809373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTCTCACCTGCGTGCTGCTGCAC[C/T]GTCTTCTCCCTGCGGAGGCCAGCAC
Phenotype
MIM: 138760
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HAGH PubMed Links

Gene Details

Gene
HAGH
Gene Name
hydroxyacylglutathione hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040427.1 873 Silent Mutation NP_001035517.1
NM_001286249.1 873 UTR 3 NP_001273178.1
NM_005326.4 873 Silent Mutation NP_005317.2
XM_011522469.2 873 Missense Mutation XP_011520771.1
XM_011522470.2 873 UTR 3 XP_011520772.1
XM_017023195.1 873 Missense Mutation XP_016878684.1

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