Product Details

SNP ID
rs141371739
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1809309 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTCCCGGGGCATCTTGAACTGGT[C/T]CTTCTCCCTGCGCACGGCCCGCATG
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_001040427.1 937 Missense Mutation AAC,GAC N253D NP_001035517.1
NM_001286249.1 937 UTR 3 NP_001273178.1
NM_005326.4 937 Missense Mutation AAC,GAC N301D NP_005317.2
XM_011522469.2 937 UTR 3 XP_011520771.1
XM_011522470.2 937 UTR 3 XP_011520772.1
XM_017023195.1 937 UTR 3 XP_016878684.1

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