Product Details

SNP ID
rs138695912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:43691034 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGGTGGACTCTGCCGACACCGG[A/C]GAGAGGTAAGCGCAGCCGGCAGGGG
Phenotype
MIM: 604780 MIM: 613726
Polymorphism
A/C, 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 99 Silent Mutation GGA,GGC G14G NP_057090.2
XM_011533779.2 99 Intron XP_011532081.1
XM_011533780.1 99 Silent Mutation GGA,GGC G14G 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 99 Intron NP_001191760.1
NM_001204832.1 99 Intron NP_001191761.1
NM_001204833.1 99 Intron NP_001191762.1
NM_001204834.1 99 Intron NP_001191763.1
NM_018075.3 99 Intron NP_060545.3
XM_011533885.2 99 Intron XP_011532187.2
XM_011533887.2 99 Intron XP_011532189.1
XM_011533889.2 99 Intron XP_011532191.1
XM_011533890.2 99 Intron XP_011532192.1
XM_017006716.1 99 Intron XP_016862205.1
XM_017006717.1 99 Intron XP_016862206.1
XM_017006718.1 99 Intron XP_016862207.1
XM_017006719.1 99 Intron XP_016862208.1
XM_017006720.1 99 Intron XP_016862209.1
XM_017006721.1 99 Intron XP_016862210.1
XM_017006722.1 99 Intron XP_016862211.1

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