Product Details

SNP ID
rs147578476
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48469446 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGCATTGGGTAGGGTGCTGCTGG[C/T]ATCCCTGGCTGAGGCGGCATGGTGT
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_001272065.1 874 Intron NP_001258994.1
NM_001272066.1 874 Missense Mutation ATA,ATG I155M NP_001258995.1
NM_001272067.1 874 Missense Mutation ATA,ATG I155M NP_001258996.1
NM_001272068.1 874 Missense Mutation ATA,ATG I155M NP_001258997.1
NM_001272082.1 874 Missense Mutation ATA,ATG I83M NP_001259011.1
NM_001272083.1 874 Missense Mutation ATA,ATG I83M NP_001259012.1
NM_016479.4 874 Intron NP_057563.3
XM_005265205.1 874 Missense Mutation ATA,ATG I155M XP_005265262.1
XM_006713188.2 874 Missense Mutation ATA,ATG I155M XP_006713251.1
XM_011533796.1 874 Missense Mutation ATA,ATG I155M XP_011532098.1
Gene
TREX1
Gene Name
three prime repair exonuclease 1
There are no transcripts associated with this gene.

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