Product Details

SNP ID
rs141964827
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73736662 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTCTGCATCTGGGCCCGAGGGAAG[A/G]GCCGCATAATCTCAGGGTGGTGGCT
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 1012 Missense Mutation CCC,CTC P225L NP_001138836.1
NM_001301058.1 1012 UTR 3 NP_001287987.1
NM_001321382.1 1012 Missense Mutation CCC,CTC P169L NP_001308311.1
NM_001321383.1 1012 UTR 3 NP_001308312.1
NM_148912.3 1012 Missense Mutation CCC,CTC P282L NP_683710.1
NM_148913.3 1012 Missense Mutation CCC,CTC P275L NP_683711.1
XM_006716144.2 1012 Missense Mutation CCC,CTC P169L XP_006716207.1
XM_011516590.2 1012 Missense Mutation CCC,CTC P261L XP_011514892.1
XM_011516591.1 1012 Missense Mutation CCC,CTC P169L 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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