Product Details

SNP ID
rs145281193
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:43691020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGGCGGAGGAGGAGGAGGTGGAC[A/T]CTGCCGACACCGGAGAGAGGTAAGC
Phenotype
MIM: 604780 MIM: 613726
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ABHD5 PubMed Links

Gene Details

Gene
ABHD5
Gene Name
abhydrolase domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016006.4 85 Missense Mutation ACT,TCT T10S NP_057090.2
XM_011533779.2 85 Intron XP_011532081.1
XM_011533780.1 85 Missense Mutation ACT,TCT T10S XP_011532082.1
Gene
ANO10
Gene Name
anoctamin 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204831.1 85 Intron NP_001191760.1
NM_001204832.1 85 Intron NP_001191761.1
NM_001204833.1 85 Intron NP_001191762.1
NM_001204834.1 85 Intron NP_001191763.1
NM_018075.3 85 Intron NP_060545.3
XM_011533885.2 85 Intron XP_011532187.2
XM_011533887.2 85 Intron XP_011532189.1
XM_011533889.2 85 Intron XP_011532191.1
XM_011533890.2 85 Intron XP_011532192.1
XM_017006716.1 85 Intron XP_016862205.1
XM_017006717.1 85 Intron XP_016862206.1
XM_017006718.1 85 Intron XP_016862207.1
XM_017006719.1 85 Intron XP_016862208.1
XM_017006720.1 85 Intron XP_016862209.1
XM_017006721.1 85 Intron XP_016862210.1
XM_017006722.1 85 Intron XP_016862211.1

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