Product Details

SNP ID
rs141002397
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:50905533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGAGGCAGCTATGTTTTTGAGTAC[C/T]ATTGTGTTCCAGGCCTTTGGATTCT
Phenotype
MIM: 613741
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABHD12B PubMed Links

Gene Details

Gene
ABHD12B
Gene Name
abhydrolase domain containing 12B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206673.1 2428 Intron NP_001193602.1
NM_181533.3 2428 Intron NP_853511.2
NM_181814.1 2428 Intron NP_861535.1
XM_006720052.1 2428 Intron XP_006720115.1
XM_011536472.1 2428 Intron XP_011534774.1
XM_011536474.2 2428 Intron XP_011534776.1
XM_017021031.1 2428 Intron XP_016876520.1
Gene
PYGL
Gene Name
phosphorylase, glycogen, liver
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163940.1 2428 Missense Mutation ATA,ATG I767M NP_001157412.1
NM_002863.4 2428 Missense Mutation ATA,ATG I801M NP_002854.3

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