Product Details

SNP ID
rs200750655
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:109626221 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCTGAAGACGGACAGTGACTCG[C/G]ACCTACAGTGAGGAGGGCAGAGGGG
Phenotype
MIM: 102771 MIM: 139340
Polymorphism
C/G, Transversion 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_001257360.1 790 Missense Mutation CAC,GAC H193D NP_001244289.1
NM_001257361.1 790 Missense Mutation CAC,GAC H75D NP_001244290.1
NM_001308170.1 790 Missense Mutation CAC,GAC H118D NP_001295099.1
NM_004037.7 790 Missense Mutation CAC,GAC H193D NP_004028.3
NM_139156.3 790 Missense Mutation CAC,GAC H112D NP_631895.1
NM_203404.1 790 Missense Mutation CAC,GAC H74D NP_981949.1
Gene
GNAT2
Gene Name
G protein subunit alpha transducin 2
There are no transcripts associated with this gene.

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