Product Details

SNP ID
rs201000111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:122380241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATCCAAGGTTACGCAAGTAACG[A/G]GTACGACTTTTTTCATTTGTAACAA
Phenotype
MIM: 614130
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADAD1 PubMed Links

Gene Details

Gene
ADAD1
Gene Name
adenosine deaminase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159285.1 425 Missense Mutation AGT,GGT S58G NP_001152757.1
NM_001159295.1 425 Missense Mutation AGT,GGT S40G NP_001152767.1
NM_139243.3 425 Missense Mutation AGT,GGT S58G NP_640336.1
XM_005262741.2 425 Missense Mutation AGT,GGT S58G XP_005262798.1
XM_005262743.2 425 Missense Mutation AGT,GGT S58G XP_005262800.1
XM_005262744.2 425 Missense Mutation AGT,GGT S58G XP_005262801.1
XM_005262745.2 425 Missense Mutation AGT,GGT S58G XP_005262802.1
XM_011531603.1 425 Missense Mutation AGT,GGT S58G XP_011529905.1

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