Product Details

SNP ID
rs140440647
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48469530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCACACTTGGAGGCTGAGGATA[A/G]GGGGCATGCACCACAGTGGTGGATG
Phenotype
MIM: 606605 MIM: 607290 MIM: 606609
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATRIP PubMed Links

Gene Details

Gene
ATRIP
Gene Name
ATR interacting protein
There are no transcripts associated with this gene.

Gene
SHISA5
Gene Name
shisa family member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272065.1 790 Intron NP_001258994.1
NM_001272066.1 790 Silent Mutation CCC,CCT P127P NP_001258995.1
NM_001272067.1 790 Silent Mutation CCC,CCT P127P NP_001258996.1
NM_001272068.1 790 Silent Mutation CCC,CCT P127P NP_001258997.1
NM_001272082.1 790 Silent Mutation CCC,CCT P55P NP_001259011.1
NM_001272083.1 790 Silent Mutation CCC,CCT P55P NP_001259012.1
NM_016479.4 790 Intron NP_057563.3
XM_005265205.1 790 Silent Mutation CCC,CCT P127P XP_005265262.1
XM_006713188.2 790 Silent Mutation CCC,CCT P127P XP_006713251.1
XM_011533796.1 790 Silent Mutation CCC,CCT P127P XP_011532098.1
Gene
TREX1
Gene Name
three prime repair exonuclease 1
There are no transcripts associated with this gene.

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