Product Details

SNP ID
rs139034654
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48469432 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAAGGTGGTGGGTACTGCATTGGG[C/T]AGGGTGCTGCTGGCATCCCTGGCTG
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_001272065.1 888 Intron NP_001258994.1
NM_001272066.1 888 Missense Mutation TAC,TGC Y160C NP_001258995.1
NM_001272067.1 888 Missense Mutation TAC,TGC Y160C NP_001258996.1
NM_001272068.1 888 Missense Mutation TAC,TGC Y160C NP_001258997.1
NM_001272082.1 888 Missense Mutation TAC,TGC Y88C NP_001259011.1
NM_001272083.1 888 Missense Mutation TAC,TGC Y88C NP_001259012.1
NM_016479.4 888 Intron NP_057563.3
XM_005265205.1 888 Missense Mutation TAC,TGC Y160C XP_005265262.1
XM_006713188.2 888 Missense Mutation TAC,TGC Y160C XP_006713251.1
XM_011533796.1 888 Missense Mutation TAC,TGC Y160C XP_011532098.1
Gene
TREX1
Gene Name
three prime repair exonuclease 1
There are no transcripts associated with this gene.

View Full Product Details