Product Details

SNP ID
rs62000437
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:122381024 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGAGCCGTTGCTTTCCAAGAAT[C/G]TTTCATCTATTTCAAATCCTGTCCT
Phenotype
MIM: 614130
Polymorphism
C/G, Transversion 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_001159285.1 458 Missense Mutation CTT,GTT L69V NP_001152757.1
NM_001159295.1 458 Missense Mutation CTT,GTT L51V NP_001152767.1
NM_139243.3 458 Missense Mutation CTT,GTT L69V NP_640336.1
XM_005262741.2 458 Missense Mutation CTT,GTT L69V XP_005262798.1
XM_005262743.2 458 Missense Mutation CTT,GTT L69V XP_005262800.1
XM_005262744.2 458 Missense Mutation CTT,GTT L69V XP_005262801.1
XM_005262745.2 458 Missense Mutation CTT,GTT L69V XP_005262802.1
XM_011531603.1 458 Missense Mutation CTT,GTT L69V XP_011529905.1

View Full Product Details