Product Details

SNP ID
rs116009588
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:36513178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGCCTGTGACGTGGCAGCCCCC[A/G]TAGGGTTTGTGGAATGAGTTTACCC
Phenotype
MIM: 102593
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AOAH PubMed Links

Gene Details

Gene
AOAH
Gene Name
acyloxyacyl hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177506.1 1598 Missense Mutation NP_001170977.1
NM_001177507.1 1598 UTR 3 NP_001170978.1
NM_001637.3 1598 UTR 3 NP_001628.1
XM_011515333.2 1598 Missense Mutation XP_011513635.1
XM_011515334.2 1598 Missense Mutation XP_011513636.1
XM_011515335.2 1598 Missense Mutation XP_011513637.1
XM_011515336.2 1598 Intron XP_011513638.1
XM_011515338.2 1598 Intron XP_011513640.1
XM_011515339.2 1598 Intron XP_011513641.1
XM_011515340.2 1598 Intron XP_011513642.1
XM_011515341.2 1598 Intron XP_011513643.1
XM_011515342.2 1598 Missense Mutation XP_011513644.1
XM_017012102.1 1598 UTR 3 XP_016867591.1
XM_017012103.1 1598 Missense Mutation XP_016867592.1
XM_017012104.1 1598 Intron XP_016867593.1
XM_017012105.1 1598 Missense Mutation XP_016867594.1
XM_017012106.1 1598 Intron XP_016867595.1

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