Product Details

SNP ID
rs150047731
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48451862 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTTCTTGAGCAAGAGAAAACCC[A/G]AGCACTCAGTGACAAGGAAAAGGAA
Phenotype
MIM: 606605 MIM: 615808
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATRIP PubMed Links

Gene Details

Gene
ATRIP
Gene Name
ATR interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271022.1 698 Missense Mutation CAA,CGA Q45R NP_001257951.1
NM_001271023.1 698 Missense Mutation CAA,CGA Q79R NP_001257952.1
NM_032166.3 698 Missense Mutation CAA,CGA Q172R NP_115542.2
NM_130384.2 698 Missense Mutation CAA,CGA Q172R NP_569055.1
Gene
CCDC51
Gene Name
coiled-coil domain containing 51
There are no transcripts associated with this gene.

Gene
TMA7
Gene Name
translation machinery associated 7 homolog
There are no transcripts associated with this gene.

View Full Product Details