Product Details

SNP ID
rs114804066
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:109620373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGTGGGAGTCACAGCACAGCAGC[A/G]GGACCTAGGGAAGGCGGTCAGCTCC
Phenotype
MIM: 102771 MIM: 139340
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AMPD2 PubMed Links

Gene Details

Gene
AMPD2
Gene Name
adenosine monophosphate deaminase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257360.1 Intron NP_001244289.1
NM_001257361.1 Intron NP_001244290.1
NM_001308170.1 Intron NP_001295099.1
NM_004037.7 Intron NP_004028.3
NM_139156.3 Intron NP_631895.1
NM_203404.1 Intron NP_981949.1
Gene
GNAT2
Gene Name
G protein subunit alpha transducin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005272.3 Intron NP_005263.1
XM_011541264.2 Intron XP_011539566.1

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