Product Details

SNP ID

rs1628812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1809431 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGGCTGTGCCGAGCCACGCCCACC[C/G]GAGGAGCCAGGGCCACTGCAGAGGA

Phenotype

MIM: 138760

Polymorphism

C/G, Transversion 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	815	Intron			NP_001035517.1
NM_001286249.1	815	Intron			NP_001273178.1
NM_005326.4	815	Intron			NP_005317.2
XM_011522469.2	815	Silent Mutation	TCC,TCG	S281S	XP_011520771.1
XM_011522470.2	815	UTR 3			XP_011520772.1
XM_017023195.1	815	Silent Mutation	TCC,TCG	S233S	XP_016878684.1

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