Product Details

SNP ID
rs200818971
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48469562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCACCACAGTGGTGGATGTGGTGG[G/T]GGTGACAACCGCTGCAAAGAGAATT
Phenotype
MIM: 606605 MIM: 607290 MIM: 606609
Polymorphism
G/T, Transversion 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_001272065.1 758 Intron NP_001258994.1
NM_001272066.1 758 Missense Mutation ACC,CCC T117P NP_001258995.1
NM_001272067.1 758 Missense Mutation ACC,CCC T117P NP_001258996.1
NM_001272068.1 758 Missense Mutation ACC,CCC T117P NP_001258997.1
NM_001272082.1 758 Missense Mutation ACC,CCC T45P NP_001259011.1
NM_001272083.1 758 Missense Mutation ACC,CCC T45P NP_001259012.1
NM_016479.4 758 Intron NP_057563.3
XM_005265205.1 758 Missense Mutation ACC,CCC T117P XP_005265262.1
XM_006713188.2 758 Missense Mutation ACC,CCC T117P XP_006713251.1
XM_011533796.1 758 Missense Mutation ACC,CCC T117P XP_011532098.1
Gene
TREX1
Gene Name
three prime repair exonuclease 1
There are no transcripts associated with this gene.

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