Product Details

SNP ID
rs201844573
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73737070 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCACACGAAGCGCCCGTCTACC[C/T]CTACCAGGTTAGTGAGCAGGTGCTG
Phenotype
MIM: 612545
Polymorphism
C/T, 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_001145364.2 841 Missense Mutation GAG,GGG E168G NP_001138836.1
NM_001301058.1 841 Intron NP_001287987.1
NM_001321382.1 841 Missense Mutation GAG,GGG E112G NP_001308311.1
NM_001321383.1 841 UTR 3 NP_001308312.1
NM_148912.3 841 Missense Mutation GAG,GGG E225G NP_683710.1
NM_148913.3 841 Missense Mutation GAG,GGG E218G NP_683711.1
XM_006716144.2 841 Missense Mutation GAG,GGG E112G XP_006716207.1
XM_011516590.2 841 Missense Mutation GAG,GGG E204G XP_011514892.1
XM_011516591.1 841 Missense Mutation GAG,GGG E112G 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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