Product Details

SNP ID
rs200700656
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:142459049 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCACCATGACGGTCTCCAAGCCCC[A/G]GAATATAACCAACCATTGACATTAC
Phenotype
MIM: 601215
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATR PubMed Links

Gene Details

Gene
ATR
Gene Name
ATR serine/threonine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184.3 7309 Missense Mutation CCG,CTG P2471L NP_001175.2
XM_011512924.1 7309 Missense Mutation CCG,CTG P2473L XP_011511226.1
XM_011512925.1 7309 Missense Mutation CCG,CTG P2409L XP_011511227.1
XM_011512926.2 7309 Intron XP_011511228.1
XM_017006643.1 7309 Missense Mutation CCG,CTG P2407L XP_016862132.1

View Full Product Details