Product Details

SNP ID
rs186249276
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:21657147 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAACTTGTTTTACAAACATATGT[C/T]GGTGCCTGGAACAAAAGAATTTCGG
Phenotype
MIM: 612197
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABHD3 PubMed Links

Gene Details

Gene
ABHD3
Gene Name
abhydrolase domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308256.1 988 Missense Mutation CAA,CGA Q230R NP_001295185.1
NM_001308257.1 988 Missense Mutation CAA,CGA Q88R NP_001295186.1
NM_138340.4 988 Missense Mutation CAA,CGA Q283R NP_612213.2
XM_011525847.2 988 Missense Mutation CAA,CGA Q283R XP_011524149.1
XM_017025571.1 988 Missense Mutation CAA,CGA Q88R XP_016881060.1
XM_017025572.1 988 Missense Mutation CAA,CGA Q88R XP_016881061.1
XM_017025573.1 988 Missense Mutation CAA,CGA Q88R XP_016881062.1
XM_017025574.1 988 Missense Mutation CAA,CGA Q88R XP_016881063.1

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