Product Details

SNP ID
rs1064718
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73736684 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAGCCGCATAATCTCAGGGTGGT[A/G]GCTGGGACTGTGCATCGCAGCGACG
Phenotype
MIM: 612545
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ABHD11 PubMed Links

Gene Details

Gene
ABHD11
Gene Name
abhydrolase domain containing 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145364.2 990 Missense Mutation CAC,TAC H218Y NP_001138836.1
NM_001301058.1 990 Missense Mutation CCA,CTA P157L NP_001287987.1
NM_001321382.1 990 Missense Mutation CAC,TAC H162Y NP_001308311.1
NM_001321383.1 990 UTR 3 NP_001308312.1
NM_148912.3 990 Missense Mutation CAC,TAC H275Y NP_683710.1
NM_148913.3 990 Missense Mutation CAC,TAC H268Y NP_683711.1
XM_006716144.2 990 Missense Mutation CAC,TAC H162Y XP_006716207.1
XM_011516590.2 990 Missense Mutation CAC,TAC H254Y XP_011514892.1
XM_011516591.1 990 Missense Mutation CAC,TAC H162Y XP_011514893.1
Gene
ABHD11-AS1
Gene Name
ABHD11 antisense RNA 1 (tail to tail)
There are no transcripts associated with this gene.

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