Product Details

SNP ID
rs142992981
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:25296436 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTCGGGCAAGTTCTCCAGTGAC[C/T]GGACCATCACGGAGTATGCACGGGA
Phenotype
MIM: 613599 MIM: 138550
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABHD12 PubMed Links

Gene Details

Gene
ABHD12
Gene Name
abhydrolase domain containing 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042472.2 2555 Intron NP_001035937.1
NM_015600.4 2555 Intron NP_056415.1
XM_005260698.1 2555 Intron XP_005260755.1
XM_011529214.2 2555 Intron XP_011527516.1
XM_011529215.1 2555 Intron XP_011527517.1
XM_011529218.1 2555 Intron XP_011527520.1
XM_017027796.1 2555 Intron XP_016883285.1
XM_017027797.1 2555 Intron XP_016883286.1
XM_017027798.1 2555 Intron XP_016883287.1
Gene
PYGB
Gene Name
phosphorylase, glycogen; brain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002862.3 2555 Missense Mutation CGG,TGG R816W NP_002853.2

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