Product Details

SNP ID
rs201303918
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48469175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGCTGGCTGGCGGGGTAGGGCG[C/T]GGCTGCTCCTCCTGAAAGCAGAGAG
Phenotype
MIM: 606605 MIM: 607290 MIM: 606609
Polymorphism
C/T, 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_001272065.1 971 Intron NP_001258994.1
NM_001272066.1 971 Missense Mutation ACG,GCG T188A NP_001258995.1
NM_001272067.1 971 Missense Mutation ACG,GCG T188A NP_001258996.1
NM_001272068.1 971 Missense Mutation ACG,GCG T188A NP_001258997.1
NM_001272082.1 971 Missense Mutation ACG,GCG T116A NP_001259011.1
NM_001272083.1 971 UTR 3 NP_001259012.1
NM_016479.4 971 Intron NP_057563.3
XM_005265205.1 971 Missense Mutation ACG,GCG T188A XP_005265262.1
XM_006713188.2 971 Missense Mutation ACG,GCG T188A XP_006713251.1
XM_011533796.1 971 Missense Mutation ACG,GCG T188A XP_011532098.1
Gene
TREX1
Gene Name
three prime repair exonuclease 1
There are no transcripts associated with this gene.

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