Product Details

SNP ID
rs199752084
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48466495 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCAACTTCCTGCCTGAAAATGG[A/G]CCCTGGAGCTCGCAGACAGGGCAGG
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271022.1 976 Intron NP_001257951.1
NM_001271023.1 976 Intron NP_001257952.1
NM_032166.3 976 Intron NP_115542.2
NM_130384.2 976 Intron NP_569055.1
Gene
SHISA5
Gene Name
shisa family member 5
There are no transcripts associated with this gene.

Gene
TREX1
Gene Name
three prime repair exonuclease 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007248.3 976 Intron NP_009179.2
NM_016381.5 976 Missense Mutation GAC,GGC D2G NP_057465.1
NM_033629.4 976 Intron NP_338599.1

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