Product Details

SNP ID
rs144881915
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73737270 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCGCCAGTTTTCGGGCACGGGAG[C/T]GGGGCAGCTCATCTGCGATGTTGAT
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_001145364.2 751 Intron NP_001138836.1
NM_001301058.1 751 Intron NP_001287987.1
NM_001321382.1 751 Missense Mutation CAC,CGC H82R NP_001308311.1
NM_001321383.1 751 UTR 3 NP_001308312.1
NM_148912.3 751 Missense Mutation CAC,CGC H195R NP_683710.1
NM_148913.3 751 Missense Mutation CAC,CGC H188R NP_683711.1
XM_006716144.2 751 Missense Mutation CAC,CGC H82R XP_006716207.1
XM_011516590.2 751 Missense Mutation CAC,CGC H174R XP_011514892.1
XM_011516591.1 751 Missense Mutation CAC,CGC H82R 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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