Product Details

SNP ID
rs116597522
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63869377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTCGACACAGGTGTGGCTGCCC[A/G]GACTCCTGCTGTTGAGGGTCTGACA
Phenotype
MIM: 603747
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ABHD16B PubMed Links

Gene Details

Gene
ABHD16B
Gene Name
abhydrolase domain containing 16B
There are no transcripts associated with this gene.

Gene
TPD52L2
Gene Name
tumor protein D52 like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243891.1 239 Intron NP_001230820.1
NM_001243892.1 239 Missense Mutation CAG,CGG Q11R NP_001230821.1
NM_001243894.1 239 Missense Mutation CAG,CGG Q34R NP_001230823.1
NM_001243895.1 239 Missense Mutation CAG,CGG Q34R NP_001230824.1
NM_003288.3 239 Missense Mutation CAG,CGG Q34R NP_003279.2
NM_199359.2 239 Missense Mutation CAG,CGG Q34R NP_955391.1
NM_199360.2 239 Missense Mutation CAG,CGG Q34R NP_955392.1
NM_199361.2 239 Missense Mutation CAG,CGG Q34R NP_955393.1
NM_199362.2 239 Missense Mutation CAG,CGG Q34R NP_955394.1
NM_199363.2 239 Missense Mutation CAG,CGG Q34R NP_955395.1
XM_011529034.2 239 Missense Mutation CAG,CGG Q34R XP_011527336.1
XM_011529035.2 239 Missense Mutation CAG,CGG Q34R XP_011527337.1
XM_017028038.1 239 Missense Mutation CAG,CGG Q34R XP_016883527.1

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